ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825759757
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290095
ClinVar RCV Id:
RCV000287690
RCV001062505
RCV001271546
RCV002518115
RCV004549620
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124453.1:p.Arg1624Gln
CA1707161
NM_001130981.2:c.4871G>A