ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915978649
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000179218
RCV002516790
RCV003907625
ClinVar Variation:
198017
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001368.2:p.Ala3085Val
CA246498
NM_001377.3:c.9254C>T