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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA411027366
Gene: CRYBB1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr22:g.26995464G>A (hg19)
chr22:g.26599500G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.26599500G>A , CM000684.2:g.26599500G>A
GRCh38
NC_000022.10:g.26995464G>A , CM000684.1:g.26995464G>A
GRCh37
NC_000022.9:g.25325464G>A
NCBI36
NG_009826.1:g.23528C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000647684.1:c.749C>T
MANE Select
ENSP00000497249.1:p.Pro250Leu
ENST00000215939.2:c.749C>T
ENSP00000215939.2:p.Pro250Leu
NM_001887.3:c.749C>T
NP_001878.1:p.Pro250Leu
XM_011529899.1:c.749C>T
XP_011528201.1:p.Pro250Leu
NM_001887.4:c.749C>T
MANE Select
NP_001878.1:p.Pro250Leu
XM_011529899.3:c.749C>T
XP_011528201.1:p.Pro250Leu
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