ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094187
Gene: FKRP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000226616
RCV000398763
RCV000672226
RCV000726141
RCV000765453
RCV001731540
RCV002374378
RCV003224238
RCV003463680
ClinVar Variation:
241460
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001034974.1:p.Val300Met
CA9532207
NM_001039885.3:c.898G>A