Canonical Allele Identifier: PA2579801521
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gln445Leu
CA410396954
NM_000071.3:c.1334A>T
CA2579811118
NM_000071.3:c.1334_1335delinsTT
CA2579811119
NM_000071.3:c.1333_1335delinsTTA
CA2579811120
NM_000071.3:c.1333_1334delinsTT