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: PA2580187504

Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 1781802

ClinVar RCV Id: RCV002415219

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269153.1:p.Gly626Asp	CA413597912 NM_001282224.2:c.1877G>A