ClinGen Allele Registry
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Canonical Allele Identifier:
PA247891
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000180421
RCV000342139
RCV000380404
RCV001308566
ClinVar Variation:
198956
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073932.1:p.Gly4035Cys
CA247890
NM_001080463.2:c.12103G>T