ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827652306
Gene: HLCS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2725471
ClinVar RCV Id:
RCV003499619
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339444.1:p.Asp171Asn
CA320395621
NM_001352515.2:c.511G>A