ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916028383
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
495400
ClinVar RCV Id:
RCV000586062
RCV000822876
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Pro472Leu
CA6989354
NM_001330579.2:c.1415C>T