ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829467714
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282423
ClinVar RCV Id:
RCV000340111
RCV001086001
RCV001820813
RCV001835749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Ala1328Val
CA1706844
NM_003494.4:c.3983C>T