ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826317897
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001322608
ClinVar Variation:
1022669
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Ala763Glu
CA388034776
NM_001243182.2:c.2288C>A