ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645382726
Gene: FH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
393567
ClinVar RCV Id:
RCV000445604
RCV000492920
RCV002522732
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000134.2:p.Ser187Leu
CA1478650
NM_000143.4:c.560C>T