ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658802265
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
533670
ClinVar RCV Id:
RCV000640890
RCV001835031
RCV002424438
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Ala909Thr
CA10459317
NM_000052.7:c.2725G>A