ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827330352
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430024
ClinVar RCV Id:
RCV000494555
RCV000984147
RCV002527096
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Tyr1247Ser
CA388020881
NM_001330579.2:c.3740A>C