ClinGen Allele Registry
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Canonical Allele Identifier:
PA116713
Gene: FKRP
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_077277.1:p.Val405Leu
NM_024301.5:c.1213G>C
NM_024301.5:c.1213G>T