ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825768643
Gene: DYSF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124457.1:p.Ala2084Thr
CA1707668
NM_001130985.2:c.6250G>A