Canonical Allele Identifier: PA1139764111
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 942749
ClinVar RCV Id: RCV001212787
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Asp371Glu
CA406496677
NM_024301.5:c.1113C>A
CA406496678
NM_024301.5:c.1113C>G