Allele Registry

Canonical Allele Identifier: PA916028371

Gene: ATP7B HGNC NCBI

ClinVar Allele:

335037

ClinVar RCV:

RCV000367067

RCV001575381

ClinVar Variation:

312394

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317508.1:p.Ser391Leu	CA6989425 NM_001330579.2:c.1172C>T