Canonical Allele Identifier: PA093977
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 4235
ClinVar RCV Id: RCV000178346 RCV000194089 RCV000540601 RCV001273521 RCV001254718 RCV002226441 RCV002490307 RCV003114175 RCV004018553 RCV003460429
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Asn463Asp
CA116728
NM_001039885.3:c.1387A>G