Canonical Allele Identifier: PA2579800808
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu412Val
CA410397424
NM_000071.3:c.1234C>G
CA2579807360
NM_000071.3:c.1234_1236delinsGTT
CA2579807361
NM_000071.3:c.1234_1236delinsGTG