ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825297244
Gene: DSP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
137173
ClinVar RCV Id:
RCV000202956
RCV000172750
RCV000400542
RCV000342233
RCV001080914
RCV001095160
RCV000247844
RCV001812025
RCV002492463
RCV000770253
RCV000853001
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001008844.1:p.Ile2270Val
CA007748
NM_001008844.3:c.6808A>G