ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA210578
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000033159
ClinVar Variation:
40069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073932.1:p.Pro2496Ser
CA210577
NM_001080463.2:c.7486C>T