ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA210502
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000006877
RCV003586123
ClinVar Variation:
6504
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073932.1:p.Ile1240Thr
CA210501
NM_001080463.2:c.3719T>C