Canonical Allele Identifier: PA2825388539
Gene: FKRP HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Val338Leu
CA406496466
NM_001039885.3:c.1012G>C
CA406496467
NM_001039885.3:c.1012G>T