ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825693079
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000648001
RCV001004972
RCV001563954
RCV001563955
RCV001756080
ClinVar Variation:
538634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123927.1:p.Asn264Ser
CA1705487
NM_001130455.2:c.791A>G