ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499289983
Gene: FKRP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Pro316Ala
CA406496337
NM_024301.5:c.946C>G