ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139728596
Gene: ABCB4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000263254
ClinVar Variation:
289125
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061338.1:p.Lys620del
CA4327194
NM_018850.3:c.1858_1860del