ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827651919
Gene: HLCS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
137550
ClinVar RCV Id:
RCV000125362
RCV000337767
RCV001572921
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339443.1:p.Val243Ile
CA291180
NM_001352514.2:c.727G>A