Canonical Allele Identifier: PA2825388442
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1520891
ClinVar RCV Id: RCV002046184
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Phe287Leu
CA406496156
NM_001039885.3:c.859T>C
CA406496160
NM_001039885.3:c.861C>A
CA406496161
NM_001039885.3:c.861C>G