Canonical Allele Identifier: PA2579799871
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gln368Leu
CA410398058
NM_000071.3:c.1103A>T
CA2579810656
NM_000071.3:c.1103_1104delinsTT
CA2579810657
NM_000071.3:c.1102_1103delinsTT