ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827654190
Gene: HLCS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2142709
ClinVar RCV Id:
RCV003076376
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339447.1:p.Ala499Thr
CA10020423
NM_001352518.2:c.1495G>A