ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499289974
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1066164
ClinVar RCV Id:
RCV001377089
RCV002395858
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Asn463Ile
CA406497262
NM_024301.5:c.1388A>T