Canonical Allele Identifier: PA2827325209
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 2127867
ClinVar RCV Id: RCV003036059 RCV003348983
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317507.1:p.Met380Leu
CA388038787
NM_001330578.2:c.1138A>T
CA388038792
NM_001330578.2:c.1138A>C