Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2826703721

Gene: COL4A6 HGNC NCBI

Linked Data

ClinVar Variation Id: 191253

ClinVar RCV Id: RCV000171443 RCV003965228

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274688.1:p.Leu1666_Ter1667insGluGlyGlyThrCysHisSerAlaProCysProProLeuProLeuThrThrValThrSerGlnThr	CA236362 NM_001287759.2:c.4999T>G