ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825753152
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_001124450.1:p.Arg1789Gln
CA1707357
NM_001130978.2:c.5366G>A