Canonical Allele Identifier: PA2826133502
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 917816
ClinVar RCV Id: RCV001175076 RCV001833732 RCV003495233
ClinVar Variation Id: 928858
ClinVar RCV Id: RCV001193391
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Asn228Lys
CA410600615
NM_001178009.3:c.684C>G
CA410600617
NM_001178009.3:c.684C>A