ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829324229
Gene: HGFAC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001519.1:p.Leu83Phe
CA2827934
NM_001528.4:c.247C>T