ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827330192
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189139
ClinVar RCV Id:
RCV000169558
RCV001310695
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Pro1189Leu
CA274408
NM_001330579.2:c.3566C>T