ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825751866
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000176067
RCV000201138
RCV000675177
RCV000726170
RCV001852168
RCV003235095
RCV003468857
ClinVar Variation:
195490
217224
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124450.1:p.Gly618Arg
CA241938
NM_001130978.2:c.1852G>A
CA277611
NM_001130978.2:c.1852G>C
