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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:
CA356657324
Gene: KLB
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr4:g.39448440T>G (hg19)
chr4:g.39446820T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.39446820T>G , CM000666.2:g.39446820T>G
GRCh38
NC_000004.11:g.39448440T>G , CM000666.1:g.39448440T>G
GRCh37
NC_000004.10:g.39124835T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000257408.5:c.2094T>G
MANE Select
ENSP00000257408.4:p.Ser698Arg
ENST00000257408.4:c.2094T>G
ENSP00000257408.4:p.Ser698Arg
NM_175737.3:c.2094T>G
NP_783864.1:p.Ser698Arg
XM_005262644.1:c.2067T>G
XP_005262701.1:p.Ser689Arg
NM_175737.4:c.2094T>G
MANE Select
NP_783864.1:p.Ser698Arg
Search 100 bp 5'
Search 100 bp 3'