This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Pro317Ser
CA410397329
NM_001321072.1:c.949C>T
CA2579805176
NM_001321072.1:c.949_951delinsTCA
CA2579805178
NM_001321072.1:c.949_951delinsTCT
CA2579813502
NM_001321072.1:c.949_951delinsAGT