ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825767655
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000523566
RCV001142639
RCV001829492
ClinVar Variation:
450303
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124457.1:p.Arg1169Cys
CA1706610
NM_001130985.2:c.3505C>T