ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA323208
Gene: FH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214418
ClinVar RCV Id:
RCV000198662
RCV000696839
RCV002465557
RCV003165454
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000134.2:p.Arg350Trp
CA323206
NM_000143.4:c.1048C>T