ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA201033
Gene: ABCB11
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000174528
RCV000273829
RCV001511202
RCV001542896
ClinVar Variation:
194214
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003733.2:p.Val444Ala
CA201032
NM_003742.4:c.1331T>C