ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825765808
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000552425
RCV000595695
RCV001274843
RCV001507565
RCV003960357
ClinVar Variation:
471308
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124456.1:p.Val1512Ile
CA1707094
NM_001130984.2:c.4534G>A