ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916028290
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
157943
ClinVar RCV Id:
RCV000145267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Gln926Pro
CA271174
NM_001330578.2:c.2777A>C