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_016883980.1:p.Met173Leu
CA410601313
XM_017028491.2:c.517A>T
CA410601316
XM_017028491.2:c.517A>C
CA2579805784
XM_017028491.2:c.517_519delinsCTT