ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112027
Gene: FH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265146
ClinVar RCV Id:
RCV000255340
RCV001020456
RCV003456040
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000134.2:p.Ala117Pro
CA10588292
NM_000143.4:c.349G>C