ClinGen Allele Registry
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Canonical Allele Identifier:
PA203366
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000179614
RCV000263282
RCV000355641
RCV003884378
ClinVar Variation:
198331
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073932.1:p.Gln3250Arg
CA203365
NM_001080463.2:c.9749A>G