Canonical Allele Identifier: PA2579792120
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu499Phe
CA410395783
NM_000071.3:c.1495C>T
CA2579807080
NM_000071.3:c.1495_1497delinsTTT