Allele Registry

Canonical Allele Identifier: PA145675

Gene: ATP7B HGNC NCBI

ClinVar RCV:

RCV000029356

RCV000078043

RCV001354224

RCV001453014

RCV002426518

ClinVar Variation:

35707

1122352

HGVS (amino-acid)	Matching Registered Transcripts
NP_000044.2:p.Lys832Arg	CA145674 NM_000053.4:c.2495A>G CA2499222479 NM_000053.4:c.2495_2496delinsGA