ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA348077
Gene: EPSTI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219332
ClinVar RCV Id:
RCV000203801
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_150280.1:p.Thr117Ile
CA348075
NM_033255.5:c.350C>T