ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645480441
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000327096
RCV000379403
RCV001093949
RCV001251986
RCV002520661
RCV003417982
ClinVar Variation:
302007
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073932.1:p.Ala336Val
CA6252667
NM_001080463.2:c.1007C>T