ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829553743
Gene: DSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
536263
ClinVar RCV Id:
RCV000644628
RCV001185026
RCV002449034
RCV003325506
RCV004004055
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004940.1:p.Ala753Val
CA402112135
NM_004949.5:c.2258C>T