ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139706129
Gene: DYNC1H1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
833997
ClinVar RCV Id:
RCV001034529
RCV003313171
RCV004030932
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001367.2:p.Ile3789Val
CA391033575
NM_001376.5:c.11365A>G