ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645383395
Gene: FH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237110
ClinVar RCV Id:
RCV000570137
RCV001001725
RCV001550243
RCV003469130
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000134.2:p.Glu488Lys
CA1478433
NM_000143.4:c.1462G>A