ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826317282
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1519464
ClinVar RCV Id:
RCV002038301
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Met266Lys
CA388041338
NM_001243182.2:c.797T>A