Canonical Allele Identifier: PA2826133821
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 263326
ClinVar RCV Id: RCV000483442 RCV001299974 RCV003153545 RCV004021015
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Arg491His
CA10587936
NM_001178009.3:c.1472G>A
CA2579811902
NM_001178009.3:c.1472_1473delinsAT