ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094178
Gene: FKRP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001034974.1:p.Val300Ala
NM_001039885.3:c.899T>C