ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916028278
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
157934
ClinVar RCV Id:
RCV000145257
RCV000427356
RCV002265624
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Met668Val
CA271170
NM_001330578.2:c.2002A>G