ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580208627
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_001339443.1:p.Ala646Val
CA10020421
NM_001352514.2:c.1937C>T