ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112107
Gene: FH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429176
ClinVar RCV Id:
RCV000494410
RCV001782983
RCV003464063
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000134.2:p.Lys230Arg
CA1478630
NM_000143.4:c.689A>G