ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741813040
Gene: FH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2838052
ClinVar RCV Id:
RCV003694858
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000134.2:p.Thr234Asn
CA345439215
NM_000143.4:c.701C>A