ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825763562
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285356
ClinVar RCV Id:
RCV000530924
RCV000664797
RCV000725642
RCV003235177
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124455.1:p.Tyr1516His
CA1707060
NM_001130983.2:c.4546T>C