ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825388373
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1376386
ClinVar RCV Id:
RCV001885858
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001034974.1:p.Pro247Thr
CA406495918
NM_001039885.3:c.739C>A