ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825038782
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1134697
ClinVar RCV Id:
RCV001469712
RCV001579789
RCV001820163
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Ala1139Gly
CA6988690
NM_000053.4:c.3416C>G