ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825756878
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499041
ClinVar RCV Id:
RCV000592866
RCV001563740
RCV001563742
RCV001563741
RCV001854033
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124452.1:p.Arg1058His
CA1706455
NM_001130980.2:c.3173G>A