ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827329745
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
554311
ClinVar RCV Id:
RCV000669922
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Gly1005Glu
CA388028869
NM_001330579.2:c.3014G>A