ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827329592
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188781
ClinVar RCV Id:
RCV000169109
RCV001508716
RCV001814079
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Ala919Val
CA273949
NM_001330579.2:c.2756C>T