ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825770545
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282624
ClinVar RCV Id:
RCV000266653
RCV000725114
RCV000757894
RCV001141002
RCV001810440
RCV003463743
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124458.1:p.Arg1755Gln
CA1707357
NM_001130986.2:c.5264G>A