ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826318385
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188859
ClinVar RCV Id:
RCV000169211
RCV000725176
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Val1105Met
CA274052
NM_001243182.2:c.3313G>A