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_001171480.1:p.Gln517Pro
CA410395523
NM_001178009.3:c.1550A>C
CA2579810319
NM_001178009.3:c.1550_1551delinsCC
CA2579810321
NM_001178009.3:c.1550_1551delinsCT