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: PA304925

Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67379

ClinVar RCV Id: RCV000058099 RCV000181845 RCV000621587 RCV000631584 RCV001841706

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742054.1:p.Arg412Trp	CA006383 NM_172057.3:c.1234C>T