ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825765282
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000007060
RCV000176936
RCV000763088
RCV000790688
RCV001229764
ClinVar Variation:
6675
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124456.1:p.Arg1033His
CA222152
NM_001130984.2:c.3098G>A