ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825171744
Gene: ABCB4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
596765
ClinVar RCV Id:
RCV000732700
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000434.1:p.Lys705Glu
CA368031082
NM_000443.4:c.2113A>G