ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827029627
Gene: DSP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1501331
ClinVar RCV Id:
RCV002017389
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305963.1:p.Ser2142Phe
CA133976559
NM_001319034.2:c.6425C>T