Canonical Allele Identifier: PA2579797190
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gln243Leu
CA410600448
NM_000071.3:c.728A>T
CA2579810893
NM_000071.3:c.727_728delinsTT
CA2579813819
NM_000071.3:c.728_729delinsTT