Canonical Allele Identifier: PA2580456028
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1961791
ClinVar RCV Id: RCV002720943
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Lys472Asn
CA406497322
NM_024301.5:c.1416G>C
CA406497323
NM_024301.5:c.1416G>T