ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825747661
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290702
ClinVar RCV Id:
RCV000380360
RCV001246606
RCV001833413
RCV002480056
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124448.1:p.Pro920Leu
CA1706296
NM_001130976.2:c.2759C>T