ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580233747
Gene: FAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2413874
ClinVar RCV Id:
RCV003104670
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361309.1:p.Val168Met
CA393619853
NM_001374380.1:c.502G>A