ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825038024
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
883818
ClinVar RCV Id:
RCV001114541
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Ser372Phe
CA388038937
NM_000053.4:c.1115C>T