ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580252514
Gene: HGFAC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004096017
ClinVar Variation:
2233424
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001519.1:p.Arg113Cys
CA2827986
NM_001528.4:c.337C>T