ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028320
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
167775
ClinVar RCV:
RCV000145251
RCV000416017
RCV002514798
ClinVar Variation:
157928
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Asn41Ser
CA271166
NM_001330579.2:c.122A>G