ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825388142
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
408718
ClinVar RCV Id:
RCV000459145
RCV000765451
RCV000991999
RCV001272539
RCV002446816
RCV003463910
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001034974.1:p.Arg110Trp
CA9532143
NM_001039885.3:c.328C>T