ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825769657
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000270967
RCV000325795
RCV000725139
RCV001084284
RCV001272823
RCV003920053
ClinVar Variation:
282765
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124458.1:p.Lys970Thr
CA1706371
NM_001130986.2:c.2909A>C