ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645396125
Gene: DYNC1H1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
434988
ClinVar RCV Id:
RCV000501345
RCV001045229
RCV004023370
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001367.2:p.Arg2397Gln
CA7352755
NM_001376.5:c.7190G>A