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: PA2825037327

Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 1013750

ClinVar RCV Id: RCV001312391

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000043.4:p.Gly626Arg	CA10459152 NM_000052.7:c.1876G>C