ClinGen Allele Registry
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Canonical Allele Identifier:
PA916044352
Gene: DOK7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418166
ClinVar RCV Id:
RCV000734143
RCV000700198
RCV002289620
RCV003243142
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350740.1:p.Ser49Gly
CA2829069
NM_001363811.2:c.145A>G