Canonical Allele Identifier: PA2579792514
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gln517Gly
CA2579810331
NM_000071.3:c.1549_1550delinsGG
CA2579810332
NM_000071.3:c.1549_1551delinsGGT