ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825750090
Gene: DYSF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124449.1:p.Ala1048Val
CA1706492
NM_001130977.2:c.3143C>T