ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA091899
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
157930
ClinVar RCV Id:
RCV000145253
RCV000415842
RCV003162602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Gly626Ala
CA271167
NM_000053.4:c.1877G>C