ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645461605
Gene: ESCO2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000311161
RCV002523676
RCV002523677
ClinVar Variation:
362739
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001017420.1:p.Lys370del
CA10627590
NM_001017420.3:c.1109_1111del