ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827329796
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
495414
ClinVar RCV Id:
RCV000674801
RCV002261126
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Val1022Ile
CA6988741
NM_001330579.2:c.3064G>A