Canonical Allele Identifier: PA2825388512
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 665178
ClinVar RCV Id: RCV000823403 RCV001830821 RCV002381877
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Glu324Asp
CA406496386
NM_001039885.3:c.972G>C
CA406496387
NM_001039885.3:c.972G>T