ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645390829
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_000044.2:p.Ala476Thr
CA6989352
NM_000053.4:c.1426G>A