ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645453416
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283305
ClinVar RCV Id:
RCV000308811
RCV000634051
RCV001272535
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Glu57Lys
CA9532119
NM_024301.5:c.169G>A