ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3088325374
Gene: HLCS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000402.3:p.Asp571His
CA409920067
NM_000411.8:c.1711G>C