ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827653345
Gene: HLCS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2151394
ClinVar RCV Id:
RCV003061318
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339446.1:p.Leu49Phe
CA10020729
NM_001352517.1:c.145C>T