ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645379033
Gene: DSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429956
ClinVar RCV Id:
RCV000493412
RCV000776315
RCV001041300
RCV002431440
RCV004003485
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077740.1:p.Thr713Met
CA034970
NM_024422.6:c.2138C>T