ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829553716
Gene: DSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3075168
ClinVar RCV Id:
RCV004015694
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004940.1:p.Val739Ala
CA035451
NM_004949.5:c.2216T>C