ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA337425
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000197773
RCV000516059
RCV000757203
RCV001104104
RCV003155119
ClinVar Variation:
216490
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073932.1:p.Tyr2016Cys
CA337424
NM_001080463.2:c.6047A>G