Canonical Allele Identifier: PA256066
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 11782
ClinVar RCV Id: RCV000012549 RCV000195239
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Ser637Leu
CA256065
NM_000052.7:c.1910C>T