ClinGen Allele Registry
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Canonical Allele Identifier:
PA916012609
Gene: ATP7A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000842321
RCV001089200
RCV002252186
RCV002449009
ClinVar Variation:
533685
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269153.1:p.Asn294Tyr
CA10458969
NM_001282224.2:c.880A>T