Canonical Allele Identifier: PA2579799530
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Lys36Ala
CA2579806411
NM_000071.3:c.106_107delinsGC
CA2579806412
NM_000071.3:c.106_108delinsGCT