Canonical Allele Identifier: PA2827386889
Gene: WHRN HGNC NCBI

Linked Data

ClinVar Variation Id: 179975
ClinVar RCV Id: RCV000156778 RCV002492601 RCV003660765
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001333819.1:p.Leu556_Ter557insGlnArgProArgProGluGlyLeuProProLeuProSerProTrpSerGlnSerLeuSerThrValGlyPheIleLysLeuLeuAlaGlyLeuGlyLeuHisGlyGlnGlyGlyArgLysThrSerProLeuHisProSerProLeuAspGlnAsnTrpGluArgLysArgAlaGlyGlnGlyArgGlnLysValArgSerGlyThrGlyAlaValLeuGlyThrGln
CA185551
NM_001346890.1:c.1669T>C