ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA358023
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000210575
RCV000799119
RCV001333710
RCV001560184
ClinVar Variation:
225033
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073932.1:p.Ser3557Pro
CA358022
NM_001080463.2:c.10669T>C