Canonical Allele Identifier: PA1139763628
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 958437
ClinVar RCV Id: RCV001231603 RCV001828848 RCV002322116 RCV003145442
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Gln105His
CA9532141
NM_024301.5:c.315G>T
CA406495088
NM_024301.5:c.315G>C