ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825750801
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217227
ClinVar RCV Id:
RCV000201092
RCV000553055
RCV000723532
RCV002509296
RCV003468915
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124449.1:p.Arg1700Trp
CA279083
NM_001130977.2:c.5098C>T