ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827652620
Gene: HLCS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1907967
ClinVar RCV Id:
RCV002581195
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339444.1:p.Leu597Phe
CA320418728
NM_001352515.2:c.1789C>T