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.Thr388Arg
CA410395869
NM_001321072.1:c.1163C>G
CA2579803765
NM_001321072.1:c.1162_1164delinsCGT
CA2579803767
NM_001321072.1:c.1162_1163delinsCG