ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645476218
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000413597
RCV000502405
RCV003766152
ClinVar Variation:
373013
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001368.2:p.Ala1542Val
CA16042810
NM_001377.3:c.4625C>T