ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825766173
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94340
ClinVar RCV Id:
RCV000178688
RCV000790680
RCV001384247
RCV001814049
RCV003466987
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124456.1:p.Asp1845Asn
CA222190
NM_001130984.2:c.5533G>A