Canonical Allele Identifier: PA2579791943
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Arg491Ala
CA2579811910
NM_000071.3:c.1471_1473delinsGCT
CA2579811911
NM_000071.3:c.1471_1472delinsGC