ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915978276
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000302504
RCV000405505
RCV001251984
ClinVar Variation:
302053
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001368.2:p.Ser2103Thr
CA6253944
NM_001377.3:c.6307T>A