ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658752248
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000578487
RCV003586194
ClinVar Variation:
488661
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073932.1:p.Arg3374Leu
CA382248031
NM_001080463.2:c.10121G>T