ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827330100
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_001317508.1:p.Ile1146Val
CA6988609
NM_001330579.2:c.3436A>G