ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580208610
Gene: HLCS
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002630302
ClinVar Variation:
1919466
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339443.1:p.Ala538Thr
CA409910981
NM_001352514.2:c.1612G>A