ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825388238
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1334893
ClinVar RCV Id:
RCV001815627
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001034974.1:p.Cys168Tyr
CA406495454
NM_001039885.3:c.503G>A