Canonical Allele Identifier: PA116707
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 4224
ClinVar RCV Id: RCV000004445 RCV000675047 RCV003144104 RCV003591621
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Pro316Thr
CA116706
NM_024301.5:c.946C>A