ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827329568
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
551862
ClinVar RCV Id:
RCV000667021
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Ala910Ser
CA388032190
NM_001330579.2:c.2728G>T