ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825761397
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501558
ClinVar RCV Id:
RCV000594913
RCV000797230
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124454.1:p.Ala1604Thr
CA1707154
NM_001130982.2:c.4810G>A