ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA116717
Gene: FKRP
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_077277.1:p.Val79Met
NM_024301.5:c.235G>A