ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827652828
Gene: HLCS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2202147
ClinVar RCV Id:
RCV002664013
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339445.1:p.Ala123Val
CA10020697
NM_001352516.2:c.368C>T