ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826318403
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
312379
ClinVar RCV Id:
RCV000331049
RCV000455157
RCV000757022
RCV002522293
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Ile1119Val
CA6988609
NM_001243182.2:c.3355A>G