Canonical Allele Identifier: PA2579792183
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile502Val
CA410395749
NM_000071.3:c.1504A>G
CA2579807931
NM_000071.3:c.1504_1506delinsGTT
CA2579807932
NM_000071.3:c.1504_1506delinsGTG