ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916002592
Gene: ATP8B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7267
ClinVar RCV Id:
RCV000007689
RCV000007690
RCV000723736
RCV003155019
RCV004547464
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005594.2:p.Ile661Thr
CA254134
NM_005603.6:c.1982T>C