ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA215562
Gene: FH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41582
ClinVar RCV Id:
RCV000034484
RCV000463959
RCV000575301
RCV001101031
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000134.2:p.Ile116Phe
CA215560
NM_000143.4:c.346A>T