Canonical Allele Identifier: PA245435
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 197346
ClinVar RCV Id: RCV000178358 RCV000670956 RCV002517730 RCV003468865
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Pro316Ser
CA245434
NM_024301.5:c.946C>T