ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829468470
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471315
ClinVar RCV Id:
RCV000532679
RCV001834797
RCV004024174
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Arg1677His
CA1707257
NM_003494.4:c.5030G>A