Canonical Allele Identifier: PA2825771717
Gene: DYSF HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124459.1:p.Arg1269Gln
CA1706712
NM_001130987.2:c.3806G>A
CA645526716
NM_001130987.2:c.3806_3807delinsAA