ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825747298
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
336955
ClinVar RCV Id:
RCV000309668
RCV000345690
RCV001066203
RCV003144229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124448.1:p.Ala563Val
CA1705924
NM_001130976.2:c.1688C>T