ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827326634
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
336886
ClinVar RCV:
RCV000343352
RCV002261043
RCV002282117
ClinVar Variation:
312382
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Thr1014Met
CA6988748
NM_001330578.2:c.3041C>T