ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825279313
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2157025
ClinVar RCV Id:
RCV003077880
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Ser391Pro
CA6989426
NM_001005918.3:c.1171T>C