ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA272866
Gene: DSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161223
ClinVar RCV Id:
RCV000148469
RCV000456802
RCV001180330
RCV002444604
RCV003998167
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004940.1:p.Ser824Leu
CA022737
NM_004949.5:c.2471C>T