ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828115738
Gene: DOK7
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000641544
RCV000732674
ClinVar Variation:
534124
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350740.1:p.Pro276Ala
CA2829431
NM_001363811.2:c.826C>G