ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645444815
Gene: ABCB11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003733.2:p.Ala1283Val
CA1950913
NM_003742.4:c.3848C>T