ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658680243
Gene: FH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
460360
ClinVar RCV Id:
RCV000548223
RCV002528329
RCV002341290
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000134.2:p.Lys172Glu
CA40331857
NM_000143.4:c.514A>G