ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825693559
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
336955
ClinVar RCV Id:
RCV000309668
RCV000345690
RCV001066203
RCV003144229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123927.1:p.Ala578Val
CA1705924
NM_001130455.2:c.1733C>T