Canonical Allele Identifier: PA2579792314
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Phe508Ile
CA410395675
NM_000071.3:c.1522T>A
CA2579805569
NM_000071.3:c.1522_1524delinsATT