ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645481498
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000348431
RCV001505716
RCV002519356
RCV003144196
ClinVar Variation:
291231
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073932.1:p.Ile4222Leu
CA6255630
NM_001080463.2:c.12664A>C