Canonical Allele Identifier: PA2827329020
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 1506931
ClinVar RCV Id: RCV002007089
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317508.1:p.Leu699Phe
CA6989056
NM_001330579.2:c.2097G>C
CA388020452
NM_001330579.2:c.2097G>T