ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825171749
Gene: ABCB4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
381720
ClinVar RCV Id:
RCV000724634
RCV000987908
RCV001161452
RCV001162981
RCV004533002
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000434.1:p.Thr715Ile
CA4327112
NM_000443.4:c.2144C>T