Canonical Allele Identifier: PA2573055521
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 1308968
ClinVar RCV Id: RCV001754856 RCV003771984
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Glu771Asp
CA413599200
NM_000052.7:c.2313G>C
CA413599203
NM_000052.7:c.2313G>T