ClinGen Allele Registry
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Canonical Allele Identifier:
PA915978390
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000336961
RCV000403491
RCV000756056
RCV002056168
ClinVar Variation:
302062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001368.2:p.Asp2488Asn
CA6254244
NM_001377.3:c.7462G>A