ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827325526
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
35703
ClinVar RCV Id:
RCV000029352
RCV000374856
RCV000514302
RCV002390119
RCV003934854
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Val536Ala
CA260129
NM_001330578.2:c.1607T>C