Canonical Allele Identifier: PA116700
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 4220
ClinVar RCV Id: RCV000360542 RCV000763056 RCV002226440 RCV002381242 RCV003466807 RCV003591620
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Pro448Leu
CA116699
NM_024301.5:c.1343C>T