Canonical Allele Identifier: PA2825388241
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1922901
ClinVar RCV Id: RCV002617852
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Asn172Lys
CA406495479
NM_001039885.3:c.516C>A
CA406495480
NM_001039885.3:c.516C>G