ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA312612
Gene: HLCS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
203763
ClinVar RCV Id:
RCV000185954
RCV000814306
RCV004020254
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000402.3:p.Val284Ile
CA312611
NM_000411.8:c.850G>A