Canonical Allele Identifier: PA234006
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 167071
ClinVar RCV Id: RCV000711665 RCV001275315 RCV001079526 RCV002381484 RCV004544393 RCV003225033
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Pro247Gln
CA234005
NM_024301.5:c.740C>A