ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111002
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195490
ClinVar RCV Id:
RCV000176067
RCV000675177
RCV001852168
RCV003235095
RCV003468857
ClinVar Variation Id:
217224
ClinVar RCV Id:
RCV000201138
RCV000726170
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Gly618Arg
CA241938
NM_003494.4:c.1852G>A
CA277611
NM_003494.4:c.1852G>C