ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825756488
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290178
ClinVar RCV Id:
RCV000304844
RCV000804560
RCV000726444
RCV001279899
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124452.1:p.Thr719Met
CA1706069
NM_001130980.2:c.2156C>T