Canonical Allele Identifier: PA2579792310
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Phe508Val
CA410395672
NM_000071.3:c.1522T>G
CA2579805557
NM_000071.3:c.1522_1524delinsGTA
CA2579805558
NM_000071.3:c.1522_1524delinsGTT
CA2579805559
NM_000071.3:c.1522_1524delinsGTG