Allele Registry

Canonical Allele Identifier: PA2827329138

Gene: ATP7B HGNC NCBI

ClinVar RCV:

RCV000029356

RCV000078043

RCV001354224

RCV001453014

RCV002426518

ClinVar Variation:

35707

1122352

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317508.1:p.Lys748Arg	CA145674 NM_001330579.2:c.2243A>G CA2499222479 NM_001330579.2:c.2243_2244delinsGA