ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658831232
Gene: HLCS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001229714.1:p.Asp571Asn
NM_001242785.2:c.1711G>A