Canonical Allele Identifier: PA2827070909
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_001308001.1:p.Arg386His
CA10587936
NM_001321072.1:c.1157G>A
CA2579811902
NM_001321072.1:c.1157_1158delinsAT