ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827329486
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
381534
ClinVar RCV Id:
RCV000434557
RCV000780936
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Arg885Trp
CA6988868
NM_001330579.2:c.2653C>T