ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645453733
Gene: FKRP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000436944
ClinVar Variation:
379888
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Tyr465Ser
CA16608282
NM_024301.5:c.1394A>C