ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825280312
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
157957
ClinVar RCV Id:
RCV000309770
RCV000587055
RCV000763902
RCV002252001
RCV002326851
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Pro1172Ser
CA271180
NM_001005918.3:c.3514C>T