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: PA916012733

Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 423830

ClinVar RCV Id: RCV000484292 RCV001265560

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269153.1:p.Thr968Ile	CA16621511 NM_001282224.2:c.2903C>T