ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825764767
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
498346
ClinVar RCV Id:
RCV000598052
RCV000648023
RCV001274446
RCV001526744
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124456.1:p.Arg569Trp
CA1705929
NM_001130984.2:c.1705C>T