ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913195287
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000206436
RCV000757201
RCV003330579
ClinVar Variation:
220042
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001368.2:p.Val586Gly
CA350469
NM_001377.3:c.1757T>G