ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913196580
Gene: ABCB11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
593516
ClinVar RCV Id:
RCV000728577
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003733.2:p.Ala1049Thr
CA349122447
NM_003742.4:c.3145G>A