ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827325409
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284672
ClinVar RCV Id:
RCV000267893
RCV000631245
RCV001311346
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Ala476Thr
CA6989352
NM_001330578.2:c.1426G>A