ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580314352
Gene: FARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2483605
ClinVar RCV Id:
RCV004278670
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004452.1:p.Asp22Ala
CA404295260
NM_004461.3:c.65A>C