ClinGen Allele Registry
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Canonical Allele Identifier:
PA916012627
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429718
ClinVar RCV Id:
RCV001241257
RCV001835828
RCV001696820
RCV003424044
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Pro462Ala
CA10459044
NM_001282224.2:c.1384C>G