ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827329702
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
157945
ClinVar RCV Id:
RCV000145270
RCV000675167
RCV001508710
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Ala979Val
CA171310
NM_001330579.2:c.2936C>T