ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827652701
Gene: HLCS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339444.1:p.Ser685Phe
CA409918250
NM_001352515.2:c.2054C>T