ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828368199
Gene: DEPDC5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
210846
ClinVar RCV Id:
RCV000193474
RCV000254574
RCV001034651
RCV001668361
RCV002317677
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356830.1:p.Ser1076Leu
CA206991
NM_001369901.1:c.3227C>T