ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825757676
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197566
ClinVar RCV Id:
RCV000178627
RCV003165373
RCV001826908
RCV000813699
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124452.1:p.Gln1775Glu
CA245812
NM_001130980.2:c.5323C>G