Canonical Allele Identifier: PA2579792504
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gln517Ala
CA2579810339
NM_000071.3:c.1549_1550delinsGC
CA2579810340
NM_000071.3:c.1549_1551delinsGCT