ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825695400
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
498372
ClinVar RCV Id:
RCV000595675
RCV001243854
RCV001829645
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123927.1:p.Gln1701Leu
CA1707293
NM_001130455.2:c.5102A>T