ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645379800
Gene: HLCS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001229713.1:p.Val550Met
CA278022
NM_001242784.3:c.1648G>A