ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139763644
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
991182
ClinVar RCV Id:
RCV001279353
RCV003323845
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Gly132Ala
CA9532148
NM_024301.5:c.395G>C