ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827653385
Gene: HLCS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1398771
ClinVar RCV Id:
RCV001922648
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339446.1:p.Ile117Val
CA409913237
NM_001352517.1:c.349A>G