Canonical Allele Identifier: PA2825694658
Gene: DYSF HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Arg1252Gln
CA1706712
NM_001130455.2:c.3755G>A
CA645526716
NM_001130455.2:c.3755_3756delinsAA