ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645390973
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285881
ClinVar RCV Id:
RCV000327770
RCV001242406
RCV001582911
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Arg827Trp
CA6988994
NM_000053.4:c.2479C>T