ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825761036
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282765
ClinVar RCV Id:
RCV000270967
RCV000325795
RCV000725139
RCV001084284
RCV001272823
RCV003920053
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124454.1:p.Lys1015Thr
CA1706371
NM_001130982.2:c.3044A>C