ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827652787
Gene: HLCS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2420338
ClinVar RCV Id:
RCV003118863
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339445.1:p.Pro53Leu
CA409913817
NM_001352516.2:c.158C>T