ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645480535
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000312587
RCV000346432
RCV002522175
RCV003456390
ClinVar Variation:
302020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073932.1:p.Ile827Val
CA6253048
NM_001080463.2:c.2479A>G