ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645390750
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
312398
ClinVar RCV Id:
RCV000259729
RCV000755836
RCV000779819
RCV002520888
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Ile224Phe
CA6989518
NM_000053.4:c.670A>T