ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573285614
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1447729
ClinVar RCV Id:
RCV001996888
RCV002407157
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Glu260Ala
CA406495999
NM_024301.5:c.779A>C