ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139763946
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
849883
ClinVar RCV Id:
RCV001053933
RCV001827338
RCV002416396
RCV003480932
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Arg265Leu
CA406496030
NM_024301.5:c.794G>T