ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA152664
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128947
ClinVar RCV Id:
RCV000116927
RCV000532523
RCV001086595
RCV001826784
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Arg1096His
CA152663
NM_003494.4:c.3287G>A