ClinGen Allele Registry
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Canonical Allele Identifier:
PA334913
Gene: DSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000181177
RCV001176345
RCV001260409
RCV001301618
RCV002433784
RCV003996607
ClinVar Variation:
199782
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077740.1:p.Arg375Gly
CA022415
NM_024422.6:c.1123C>G