ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825769142
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94270
ClinVar RCV Id:
RCV000080233
RCV000550203
RCV000710125
RCV001835673
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124458.1:p.Glu458Lys
CA147721
NM_001130986.2:c.1372G>A