ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826304229
Gene: HLCS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2202514
ClinVar RCV Id:
RCV002630000
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001229713.1:p.Asp228His
CA409912528
NM_001242784.3:c.682G>C