ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826605579
Gene: ATP7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
245774
ClinVar RCV Id:
RCV000235848
RCV000784893
RCV001084874
RCV002277595
RCV002321900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Arg1278Trp
CA10459496
NM_001282224.2:c.3832C>T