ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028292
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188722
ClinVar RCV Id:
RCV000169019
RCV001558241
RCV003390880
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Ala940Val
CA273886
NM_001330578.2:c.2819C>T