ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825164415
Gene: HLCS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2044654
ClinVar RCV Id:
RCV002900317
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000402.3:p.Ala499Val
CA10020421
NM_000411.8:c.1496C>T