Canonical Allele Identifier: PA645400245
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 365094
ClinVar RCV Id: RCV000396856 RCV001373160 RCV002058772 RCV004022107
ClinVar Variation Id: 407139
ClinVar RCV Id: RCV000473361 RCV000600129 RCV002323702 RCV002489031
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001108225.1:p.His108Tyr
CA5253160
NM_001114753.3:c.322C>T
CA16612414
NM_001114753.3:c.321_322delinsTT