ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913199099
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
157928
ClinVar RCV Id:
RCV000145251
RCV000416017
RCV002514798
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Asn41Ser
CA271166
NM_001005918.3:c.122A>G