ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580455874
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2441447
ClinVar RCV Id:
RCV003143988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Glu382Val
CA9532257
NM_024301.5:c.1145A>T