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.Ile516Leu
CA410395541
ENST00000352178.9:c.1546A>C
CA2579808413
ENST00000352178.9:c.1546_1548delinsTTA
CA2579808414
ENST00000352178.9:c.1546_1548delinsCTT
CA2579808415
ENST00000352178.9:c.1546_1548delinsTTG