ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA240271
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000174700
RCV000270084
RCV000322835
ClinVar Variation:
194349
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073932.1:p.Lys669Glu
CA240270
NM_001080463.2:c.2005A>G