ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827330391
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
157956
ClinVar RCV Id:
RCV000145281
RCV003895025
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Gly1263Ser
CA271178
NM_001330579.2:c.3787G>A