ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825761819
Gene: DYSF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124454.1:p.Ser1990Phe
CA347226442
NM_001130982.2:c.5969C>T