ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828115563
Gene: DOK7
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000641557
RCV001549466
RCV003980242
RCV004025621
ClinVar Variation:
534133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350740.1:p.Ala158Pro
CA2829279
NM_001363811.2:c.472G>C