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
ENSP00000381231.4:p.Gln243Leu
CA410600448
ENST00000398165.8:c.728A>T
CA2579810893
ENST00000398165.8:c.727_728delinsTT
CA2579813819
ENST00000398165.8:c.728_729delinsTT