Canonical Allele Identifier: PA2741808937
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 2928092
ClinVar RCV Id: RCV003786914
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Ser1120Arg
CA413603976
NM_000052.7:c.3358A>C
CA413603981
NM_000052.7:c.3360C>A
CA413603982
NM_000052.7:c.3360C>G