ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092006
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
35710
ClinVar RCV Id:
RCV000029359
RCV000790662
RCV002433469
RCV003924861
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Thr977Met
CA220308
NM_000053.4:c.2930C>T