ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827326095
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2139980
ClinVar RCV Id:
RCV003066731
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Asn814Ser
CA6988939
NM_001330578.2:c.2441A>G