Canonical Allele Identifier: PA2825388751
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 459231
ClinVar RCV Id: RCV000547216 RCV000596182 RCV001834761 RCV002395327 RCV002497081
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Asn480Ile
CA9532321
NM_001039885.3:c.1439A>T