ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827326921
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
35724
ClinVar RCV Id:
RCV000029373
RCV000078052
RCV000755468
RCV002453269
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.His1129Arg
CA145687
NM_001330578.2:c.3386A>G