ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580455807
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2441450
ClinVar RCV Id:
RCV003143991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Arg320Cys
CA406496362
NM_024301.5:c.958C>T