ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829553662
Gene: DSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1786436
ClinVar RCV Id:
RCV002417813
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004940.1:p.Leu711Gln
CA402112580
NM_004949.5:c.2132T>A