ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825279397
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284672
ClinVar RCV Id:
RCV000267893
RCV000631245
RCV001311346
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Ala476Thr
CA6989352
NM_001005918.3:c.1426G>A