ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916006161
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
370820
ClinVar RCV Id:
RCV000410034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Gly988Ser
CA6988744
NM_001243182.2:c.2962G>A