ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658677225
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001092187
RCV001291402
RCV003766901
ClinVar Variation:
446551
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073932.1:p.Leu1567Val
CA227396060
NM_001080463.2:c.4699C>G