Canonical Allele Identifier: PA2825037413
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 2090038
ClinVar RCV Id: RCV003005753
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Leu714Phe
CA10459202
NM_000052.7:c.2142G>C
CA413598510
NM_000052.7:c.2142G>T