Allele Registry

Canonical Allele Identifier: PA2825280271

Gene: ATP7B HGNC NCBI

ClinVar Allele:

487514

ClinVar RCV:

RCV000590198

RCV003609157

ClinVar Variation:

495419

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005918.1:p.Gly1148Val	CA388020155 NM_001005918.3:c.3443G>T