ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093902
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4226
ClinVar RCV Id:
RCV000004447
RCV000201040
RCV000532707
RCV000597675
RCV003466808
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001034974.1:p.Ala455Asp
CA116710
NM_001039885.3:c.1364C>A