Canonical Allele Identifier: PA2827070606
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212864
ClinVar RCV Id: RCV000200072 RCV001835719
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Val267Phe
CA324632
NM_001321072.1:c.799G>T
CA2579803078
NM_001321072.1:c.799_801delinsTTT