ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825346250
Gene: CERKL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
393046
ClinVar RCV Id:
RCV000419430
RCV001138252
RCV001271350
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001025482.1:p.Glu53Lys
CA2010938
NM_001030311.3:c.157G>A