ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828510031
Gene: ATP8B1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361315.1:p.Ala521Thr
CA8974493
NM_001374386.1:c.1561G>A