ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095123
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000507888
RCV003766877
ClinVar Variation:
439632
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001368.2:p.Met1991Lys
CA382246068
NM_001377.3:c.5972T>A