ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825756112
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
287822
ClinVar RCV Id:
RCV000329171
RCV001833378
RCV001247468
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124452.1:p.Ala346Thr
CA1705596
NM_001130980.2:c.1036G>A