ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741854771
Gene: CKAP2L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3054735
ClinVar RCV Id:
RCV003969636
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291290.1:p.Ser48Pro
CA1836815
NM_001304361.2:c.142T>C