Canonical Allele Identifier: PA2579792353
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu510Val
CA410395652
NM_000071.3:c.1528C>G
CA2579806964
NM_000071.3:c.1528_1530delinsGTA
CA2579806965
NM_000071.3:c.1528_1530delinsGTT