ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573285485
Gene: FKRP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002033101
ClinVar Variation:
1347361
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Gln105Glu
CA406495084
NM_024301.5:c.313C>G