ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825753100
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281237
ClinVar RCV Id:
RCV000302512
RCV000547122
RCV001274105
RCV001531488
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124450.1:p.Arg1738Trp
CA1707306
NM_001130978.2:c.5212C>T