ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829552614
Gene: DSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000413449
RCV001183814
RCV001209186
ClinVar Variation:
372720
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004940.1:p.Arg203His
CA038941
NM_004949.5:c.608G>A