ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828318622
Gene: FHL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1760990
ClinVar RCV Id:
RCV002412303
RCV003099773
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356260.1:p.Arg263Cys
CA414609838
NM_001369331.1:c.787C>T