ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580456061
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1913601
ClinVar RCV Id:
RCV002608382
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Ser490Gly
CA406497426
NM_024301.5:c.1468A>G