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
XP_011528084.1:p.Asp494Ala
CA410395861
XM_011529782.1:c.1481A>C
CA2579811209
XM_011529782.1:c.1481_1482delinsCG
CA2579811210
XM_011529782.1:c.1481_1482delinsCT
CA2579813809
XM_011529782.1:c.1481_1482delinsCA