ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658674527
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452221
ClinVar RCV Id:
RCV000521317
RCV003766966
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Ala48Thr
CA413598781
NM_000052.7:c.142G>A