ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094014
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4221
ClinVar RCV Id:
RCV000004442
RCV000082182
RCV000231711
RCV000503787
RCV000515332
RCV000626960
RCV000612115
RCV000660622
RCV001197775
RCV001329320
RCV001526640
RCV002222338
RCV002408451
RCV003993736
RCV004532287
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001034974.1:p.Leu276Ile
CA116701
NM_001039885.3:c.826C>A