ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825758462
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282410
ClinVar RCV Id:
RCV000292426
RCV000725084
RCV001070518
RCV003469225
RCV003317179
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124453.1:p.Asp421Asn
CA10604166
NM_001130981.2:c.1261G>A