ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645379254
Gene: DSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
427964
ClinVar RCV Id:
RCV000520921
RCV000497924
RCV000704414
RCV001188643
RCV002431433
RCV004003436
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077740.1:p.Ser868Phe
CA029438
NM_024422.6:c.2603C>T