ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827325029
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
959647
ClinVar RCV Id:
RCV001233033
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Gly280Asp
CA388040995
NM_001330578.2:c.839G>A