Canonical Allele Identifier: PA2579800848
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Val414Ser
CA2579803052
NM_000071.3:c.1240_1241delinsTC
CA2579803053
NM_000071.3:c.1240_1242delinsTCG
CA2579803056
NM_000071.3:c.1240_1241delinsAG