Canonical Allele Identifier: PA2579797122
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile240Phe
CA410600484
NM_000071.3:c.718A>T
CA2579813659
NM_000071.3:c.718_720delinsTTT