ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645382753
Gene: FH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000445627
RCV000563738
RCV002526368
ClinVar Variation:
393568
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000134.2:p.Thr193_Ala194del
CA16609372
NM_000143.4:c.578_583del