Canonical Allele Identifier: PA2499249730
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 1029612
ClinVar RCV Id: RCV001330944
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317508.1:p.Val299Leu
CA388040564
NM_001330579.2:c.895G>T
CA388040567
NM_001330579.2:c.895G>C