ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825750032
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
538645
ClinVar RCV Id:
RCV000648017
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124449.1:p.Pro1006Gln
CA347216942
NM_001130977.2:c.3017C>A