ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825764470
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000080333
RCV000696449
RCV001831823
RCV003330426
ClinVar Variation:
94365
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124456.1:p.Val287Glu
CA222220
NM_001130984.2:c.860T>A