Canonical Allele Identifier: PA2579792289
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.His507Val
CA2579809109
NM_000071.3:c.1519_1521delinsGTG
CA2579809110
NM_000071.3:c.1519_1521delinsGTT