ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825758338
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94365
ClinVar RCV Id:
RCV000080333
RCV000696449
RCV001831823
RCV003330426
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124453.1:p.Val317Glu
CA222220
NM_001130981.2:c.950T>A