Canonical Allele Identifier: PA645400254
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 414312
ClinVar RCV Id: RCV000473062 RCV001167064 RCV002367594 RCV003221999 RCV003902675
ClinVar Variation Id: 2741969
ClinVar RCV Id: RCV003593522
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001108225.1:p.Pro130Ser
CA5253131
NM_001114753.3:c.388C>T
CA2697558072
NM_001114753.3:c.387_388delinsAT