Canonical Allele Identifier: PA2579792052
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu496Arg
CA410395825
NM_000071.3:c.1487T>G
CA2579807109
NM_000071.3:c.1487_1488delinsGT
CA2579807110
NM_000071.3:c.1487_1488delinsGA
CA2579807112
NM_000071.3:c.1486_1487delinsAG