ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826317564
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
157930
ClinVar RCV Id:
RCV000145253
RCV000415842
RCV003162602
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Gly515Ala
CA271167
NM_001243182.2:c.1544G>C