Canonical Allele Identifier: PA2580455518
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 2054954
ClinVar RCV Id: RCV002933088
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Glu124Asp
CA406495199
NM_024301.5:c.372G>C
CA406495200
NM_024301.5:c.372G>T