ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3074697337
Gene: ESCO2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001017420.1:p.Lys253del
CA2686704265
NM_001017420.3:c.758_760del