ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247387
Gene: DOK7
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000180011
RCV001085069
RCV003977480
ClinVar Variation:
198625
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775931.3:p.Thr438Arg
CA247386
NM_173660.5:c.1313C>G