ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827330638
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
35730
ClinVar RCV Id:
RCV000029379
RCV000251030
RCV000224611
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Thr1350Met
CA260152
NM_001330579.2:c.4049C>T