Canonical Allele Identifier: PA2579794464
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asn113Leu
CA2579812335
NM_000071.3:c.337_339delinsCTT
CA2579812336
NM_000071.3:c.337_339delinsCTG
CA2579812337
NM_000071.3:c.337_339delinsTTG