Canonical Allele Identifier: PA658674715
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 465122
ClinVar RCV Id: RCV000526977 RCV000600179 RCV001572670 RCV002314989
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Val1401Leu
CA10459517
NM_000052.7:c.4201G>C
CA413605894
NM_000052.7:c.4201G>T