ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827329960
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
167799
ClinVar RCV:
RCV000145277
RCV000667056
RCV001576695
ClinVar Variation:
157952
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Ala1099Gly
CA171321
NM_001330579.2:c.3296C>G