Canonical Allele Identifier: PA2827071041
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 124
ClinVar RCV Id: RCV000000146 RCV000675072 RCV002468955 RCV003597960
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Leu434Ser
CA113889
NM_001321072.1:c.1301T>C
CA2579806942
NM_001321072.1:c.1301_1302delinsCT
CA2579806943
NM_001321072.1:c.1300_1302delinsAGT