ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825279192
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
575516
ClinVar RCV Id:
RCV000697754
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Val285Gly
CA388040888
NM_001005918.3:c.854T>G