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: PA2825038610

Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 3074742

ClinVar RCV Id: RCV004014276

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000044.2:p.Thr999Ser	CA388032091 NM_000053.4:c.2996C>G CA388032096 NM_000053.4:c.2995A>T