Canonical Allele Identifier: PA2825388488
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 96115
ClinVar RCV Id: RCV000082183 RCV000178344 RCV001050280 RCV003466994 RCV003987356
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Thr314Met
CA202828
NM_001039885.3:c.941C>T