Canonical Allele Identifier: PA1139670419
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 968940
ClinVar RCV Id: RCV001244182
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Thr1102Ser
CA10459405
NM_000052.7:c.3304A>T
CA413603861
NM_000052.7:c.3305C>G