Canonical Allele Identifier: PA2826638239
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 465122
ClinVar RCV Id: RCV000526977 RCV000600179 RCV001572670 RCV002314989
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.Val1323Leu
CA10459517
NM_001282224.2:c.3967G>C
CA413605894
NM_001282224.2:c.3967G>T