ClinGen Allele Registry
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Canonical Allele Identifier:
PA245193
Gene: DYNC1H1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197195
ClinVar RCV Id:
RCV000178163
RCV000548783
RCV000623418
RCV002247590
RCV001836743
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001367.2:p.Arg251His
CA245192
NM_001376.5:c.752G>A