ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827330037
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
382098
ClinVar RCV Id:
RCV000427717
RCV001828411
RCV002265761
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Thr1124Met
CA6988621
NM_001330579.2:c.3371C>T