ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829468206
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471310
ClinVar RCV Id:
RCV000732545
RCV000559661
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Ala1559Thr
CA1707145
NM_003494.4:c.4675G>A