ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499271440
Gene: ATP8B1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001553878
RCV001553879
RCV002570703
ClinVar Variation:
1192345
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005594.2:p.Ala1152Thr
CA8974007
NM_005603.6:c.3454G>A