Canonical Allele Identifier: PA354323
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 96108
ClinVar RCV Id: RCV000082175 RCV000227473 RCV000711662 RCV000577971 RCV001563824 RCV001563823 RCV002453409
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Ala114Gly
CA149248
NM_001039885.3:c.341C>G