ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580187289
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2202272
ClinVar RCV Id:
RCV002664044
RCV004072109
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Cys19Tyr
CA10458878
NM_001282224.2:c.56G>A