ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825763942
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430739
ClinVar RCV Id:
RCV000494731
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124455.1:p.Gly1864Asp
CA347223179
NM_001130983.2:c.5591G>A