ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825279774
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
35712
ClinVar RCV Id:
RCV000029361
RCV000505878
RCV000255583
RCV002513236
RCV003904863
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Thr784Met
CA090896
NM_001005918.3:c.2351C>T