ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827330118
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
456557
ClinVar RCV Id:
RCV000541103
RCV001507826
RCV002350175
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Val1155Gly
CA6988580
NM_001330579.2:c.3464T>G