ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645396111
Gene: DYNC1H1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246307
ClinVar RCV Id:
RCV000235243
RCV000806855
RCV003147430
RCV003147429
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001367.2:p.Ala2380Thr
CA7352745
NM_001376.5:c.7138G>A