ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741875450
Gene: DYNC1H1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2813859
ClinVar RCV Id:
RCV003643712
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001367.2:p.Val760Phe
CA391022531
NM_001376.5:c.2278G>T