ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829553723
Gene: DSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3075452
ClinVar RCV Id:
RCV004016970
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004940.1:p.Ala744Ser
CA402112347
NM_004949.5:c.2230G>T