ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828508878
Gene: FAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2441332
ClinVar RCV Id:
RCV003147161
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361306.1:p.Arg162His
CA7691195
NM_001374377.1:c.485G>A