ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580208589
Gene: HLCS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2112584
ClinVar RCV Id:
RCV003026895
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339443.1:p.Ala422Thr
CA409912227
NM_001352514.2:c.1264G>A