ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645396558
Gene: DYNC1H1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246487
ClinVar RCV Id:
RCV000236243
RCV000558294
RCV002274953
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001367.2:p.Ile4619Val
CA10584483
NM_001376.5:c.13855A>G