ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827327107
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_001317507.1:p.Pro1195Leu
CA274408
NM_001330578.2:c.3584C>T