ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028308
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000145270
RCV000675167
RCV001508710
ClinVar Variation:
157945
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Ala985Val
CA171310
NM_001330578.2:c.2954C>T