ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825757868
Gene: DYSF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124452.1:p.Pro1952Leu
CA347226288
NM_001130980.2:c.5855C>T