ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA256072
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11792
ClinVar RCV Id:
RCV000012559
RCV000194377
RCV003238723
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000043.4:p.Asn1304Ser
CA256071
NM_000052.7:c.3911A>G