Canonical Allele Identifier: PA1139696270
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 936814
ClinVar RCV Id: RCV001205699 RCV002240961
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Ala288Ser
CA321091499
NM_001320298.2:c.862G>T
CA2579812911
NM_001320298.2:c.862_864delinsAGT
CA2579812912
NM_001320298.2:c.862_864delinsTCT