Canonical Allele Identifier: PA2826638147
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 2928092
ClinVar RCV Id: RCV003786914
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.Ser1042Arg
CA413603976
NM_001282224.2:c.3124A>C
CA413603981
NM_001282224.2:c.3126C>A
CA413603982
NM_001282224.2:c.3126C>G