ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825748840
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452293
ClinVar RCV Id:
RCV000520965
RCV001829524
RCV002528266
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124448.1:p.Ala1959Val
CA1707565
NM_001130976.2:c.5876C>T