Canonical Allele Identifier: PA645499370
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 389461
ClinVar RCV Id: RCV000444044 RCV001508048 RCV001861618 RCV002402192 RCV001833557
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Thr574Met
CA10459093
NM_000052.7:c.1721C>T