ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741970597
Gene: ABCB4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2690801
ClinVar RCV Id:
RCV003489507
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061337.1:p.Arg1239Cys
CA4326707
NM_018849.3:c.3715C>T