ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825764914
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000300931
RCV000405461
RCV000726455
RCV001082501
RCV001271788
RCV003910038
ClinVar Variation:
290257
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124456.1:p.His722Asn
CA1706110
NM_001130984.2:c.2164C>A