ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA120042
Gene: STAR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000009558
RCV000518086
ClinVar Variation:
8995
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000340.2:p.Arg182His
CA120041
NM_000349.3:c.545G>A