ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827329892
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
495415
ClinVar RCV Id:
RCV000586771
RCV000666672
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Arg1067His
CA6988682
NM_001330579.2:c.3200G>A