Canonical Allele Identifier: PA2579800889
Gene: CBS HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gln415His
CA410397391
NM_000071.3:c.1245G>T
CA410397393
NM_000071.3:c.1245G>C