Canonical Allele Identifier: PA094187
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 241460
ClinVar RCV Id: RCV000226616 RCV000726141 RCV000398763 RCV000672226 RCV000765453 RCV003463680 RCV001731540 RCV002374378 RCV003224238
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Val300Met
CA9532207
NM_001039885.3:c.898G>A