ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499229015
Gene: FH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1074129
ClinVar RCV Id:
RCV002551557
RCV003298632
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000134.2:p.Ala317Val
CA345438346
NM_000143.4:c.950C>T