ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829997281
Gene: DSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2142747
ClinVar RCV Id:
RCV003062691
RCV003533338
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077740.1:p.Val188Met
CA402113583
NM_024422.6:c.562G>A