ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825763388
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000726406
RCV001086957
RCV001271534
RCV003910035
ClinVar Variation:
289963
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124455.1:p.Asn1352Ser
CA1706892
NM_001130983.2:c.4055A>G