ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828052718
Gene: ABCG8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003493257
ClinVar Variation:
2690820
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001344250.1:p.Thr399Met
CA1637336
NM_001357321.2:c.1196C>T