Canonical Allele Identifier: PA916024746
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 188787

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Gly11Arg
CA273957
NM_001321072.1:c.31G>A
CA410601899
NM_001321072.1:c.31G>C
CA2579810109
NM_001321072.1:c.31_33delinsAGA
CA2579813745
NM_001321072.1:c.31_33delinsCGC