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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:
CA513921669
Gene: CRYBB1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr22:g.26995460G>C (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.26599496G>C , CM000684.2:g.26599496G>C
GRCh38
NC_000022.10:g.26995460G>C , CM000684.1:g.26995460G>C
GRCh37
NC_000022.9:g.25325460G>C
NCBI36
NG_009826.1:g.23532C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000647684.1:c.753C>G
MANE Select
ENSP00000497249.1:p.Pro251=
ENST00000215939.2:c.753C>G
ENSP00000215939.2:p.Pro251=
NM_001887.3:c.753C>G
NP_001878.1:p.Pro251=
XM_011529899.1:c.753C>G
XP_011528201.1:p.Pro251=
NM_001887.4:c.753C>G
MANE Select
NP_001878.1:p.Pro251=
XM_011529899.3:c.753C>G
XP_011528201.1:p.Pro251=
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