Canonical Allele Identifier: PA2579797197
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gln243Pro
CA410600446
NM_000071.3:c.728A>C
CA2579810890
NM_000071.3:c.728_729delinsCA
CA2579810892
NM_000071.3:c.728_729delinsCT