ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA334883
Gene: DSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
199771
ClinVar RCV Id:
RCV000765410
RCV001179585
RCV001699057
RCV002426867
RCV003996600
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004940.1:p.Lys749Gln
CA022646
NM_004949.5:c.2245A>C