ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA189178
Gene: FH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000134.2:p.Ala41Val
CA189176
NM_000143.4:c.122C>T