ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825752663
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000340111
RCV001086001
RCV001820813
RCV001835749
ClinVar Variation:
282423
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124450.1:p.Ala1328Val
CA1706844
NM_001130978.2:c.3983C>T