ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826317508
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2141850
ClinVar RCV Id:
RCV003058756
RCV003395576
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Ala465Val
CA6989239
NM_001243182.2:c.1394C>T