ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658677221
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000516112
ClinVar Variation:
446596
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073932.1:p.Cys1518Tyr
CA382239171
NM_001080463.2:c.4553G>A