ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825768089
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
451760
ClinVar RCV:
RCV000559661
RCV000732545
ClinVar Variation:
471310
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124457.1:p.Ala1577Thr
CA1707145
NM_001130985.2:c.4729G>A