ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826317387
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
495400
ClinVar RCV Id:
RCV000586062
RCV000822876
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Pro361Leu
CA6989354
NM_001243182.2:c.1082C>T