ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825768946
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94366
ClinVar RCV Id:
RCV000080334
RCV003236666
RCV003460754
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124458.1:p.Ser290Pro
CA222222
NM_001130986.2:c.868T>C