ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916035405
Gene: HLCS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
529441
ClinVar RCV Id:
RCV000634878
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339443.1:p.Val751Met
CA409919494
NM_001352514.2:c.2251G>A