Canonical Allele Identifier: PA091812
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 188802
ClinVar RCV Id: RCV000169133 RCV000415237 RCV003311702
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000044.2:p.Ala1003Thr
CA273980
NM_000053.4:c.3007G>A
CA2837240920
NM_000053.4:c.3007_3009delinsACA