ClinGen Allele Registry
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Canonical Allele Identifier:
PA210512
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000006882
RCV000516133
RCV000754947
RCV001291052
ClinVar Variation:
6509
446586
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073932.1:p.Phe209Ile
CA210511
NM_001080463.2:c.624_625delinsAA
CA6252556
NM_001080463.2:c.625T>A