ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA271171
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
157934
ClinVar RCV Id:
RCV000145257
RCV000427356
RCV002265624
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Met668Val
CA271170
NM_000053.4:c.2002A>G