ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645480714
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000380841
RCV000820489
RCV001000057
ClinVar Variation:
287528
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073932.1:p.Thr1639Lys
CA6253654
NM_001080463.2:c.4916C>A