ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091836
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3852
ClinVar RCV Id:
RCV000004056
RCV000389880
RCV002444420
RCV003398441
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Arg778Leu
CA340126
NM_000053.4:c.2333G>T