ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827329227
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3851
ClinVar RCV Id:
RCV000004055
RCV001091639
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Ala790Val
CA252892
NM_001330579.2:c.2369C>T