ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825037901
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3071071
ClinVar RCV Id:
RCV004014573
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Gln241Leu
CA388041771
NM_000053.4:c.722A>T