ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645480739
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000281964
RCV000371817
ClinVar Variation:
302042
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073932.1:p.Gly1738Ser
CA6253725
NM_001080463.2:c.5212G>A