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
ENSP00000344460.5:p.Phe99Leu
CA10583890
ENST00000352178.9:c.297C>G
CA410602017
ENST00000352178.9:c.297C>A
CA410602021
ENST00000352178.9:c.295T>C
CA2579805991
ENST00000352178.9:c.295_297delinsCTG
CA2579805992
ENST00000352178.9:c.295_297delinsCTT