Canonical Allele Identifier: PA2579792204
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu503Arg
CA410395728
NM_000071.3:c.1508T>G
CA2579807076
NM_000071.3:c.1508_1509delinsGT
CA2579807077
NM_000071.3:c.1507_1508delinsAG