ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916073262
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
657405
ClinVar RCV Id:
RCV000813998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Val129Glu
CA406495226
NM_024301.5:c.386T>A