ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111054
Gene: FAH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000128.1:p.Pro261Leu
CA233969
NM_000137.4:c.782C>T