ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573285633
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1503466
ClinVar RCV Id:
RCV002022837
RCV002443036
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Gly282Ala
CA9532204
NM_024301.5:c.845G>C