Canonical Allele Identifier: PA645453692
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 435192
ClinVar RCV Id: RCV000501908 RCV001048190 RCV001755740 RCV001829425
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Ala397Val
CA9532272
NM_024301.5:c.1190C>T