ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825279922
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
495412
ClinVar RCV Id:
RCV000586978
RCV002223878
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Leu876Phe
CA388029024
NM_001005918.3:c.2626C>T