ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825748711
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_001124448.1:p.Gly1828Asp
CA347223179
NM_001130976.2:c.5483G>A