ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829466072
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
538634
ClinVar RCV Id:
RCV000648001
RCV001004972
RCV001563954
RCV001563955
RCV001756080
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Asn263Ser
CA1705487
NM_003494.4:c.788A>G