ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA340667
Gene: ATP8B1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005594.1:p.Asp554Asn
NM_005603.4:c.1660G>A