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: PA329499

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67491

ClinVar RCV Id: RCV000058220 RCV001257224 RCV001841753 RCV002221485 RCV004019019

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742054.1:p.Ala776Val	CA008234 NM_172057.3:c.2327C>T