ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057575649
Gene: FKRP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Pro247_Thr250del
CA10606831
NM_024301.5:c.738_749del