ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828508881
Gene: FAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1440957
ClinVar RCV Id:
RCV001937019
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361306.1:p.Ser165Cys
CA393619841
NM_001374377.1:c.494C>G