ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828115821
Gene: DOK7
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000641549
RCV003144415
ClinVar Variation:
534127
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350740.1:p.Pro325His
CA2829507
NM_001363811.2:c.974C>A