ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658809951
Gene: ATP8B1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005594.1:p.Arg71His
CA8974918
NM_005603.4:c.212G>A