Canonical Allele Identifier: PA658810544
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 498269
ClinVar RCV Id: RCV000596371 RCV000810990 RCV000674695 RCV003459466
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Arg275Cys
CA406496081
NM_024301.5:c.823C>T