ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827324939
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
312397
ClinVar RCV Id:
RCV000354484
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Arg226Trp
CA6989517
NM_001330578.2:c.676C>T