ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825693041
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000656845
RCV000706741
RCV001276722
RCV001336579
ClinVar Variation:
198494
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123927.1:p.Asn237Thr
CA247174
NM_001130455.2:c.710A>C