ClinGen Allele Registry
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Canonical Allele Identifier:
PA916012677
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284222
ClinVar RCV Id:
RCV000725407
RCV001085214
RCV002314011
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Arg652Gln
CA10459180
NM_001282224.2:c.1955G>A