Canonical Allele Identifier: PA916028408
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 495412
ClinVar RCV Id: RCV000586978 RCV002223878
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317508.1:p.Leu999Phe
CA388029024
NM_001330579.2:c.2995C>T