Canonical Allele Identifier: PA116717
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 4229
ClinVar RCV Id: RCV000004450 RCV000236146 RCV000513718 RCV001083979 RCV002444421
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Val79Met
CA116716
NM_024301.5:c.235G>A