ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825754219
Gene: DYSF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124451.1:p.Ala729Val
CA1706065
NM_001130979.2:c.2186C>T