Canonical Allele Identifier: PA1139670332
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 841059
ClinVar RCV Id: RCV001043203 RCV001827261
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Val789Leu
CA413599482
NM_000052.7:c.2365G>C
CA413599485
NM_000052.7:c.2365G>T