ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826318180
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
370081
ClinVar RCV Id:
RCV000411652
RCV001091637
RCV002323574
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Glu953Ala
CA6988781
NM_001243182.2:c.2858A>C