ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828099688
Gene: CEP57
HGNC
NCBI
Linked Data
ClinVar Variation Id:
472259
ClinVar RCV Id:
RCV000525894
RCV003935493
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350533.1:p.Arg199His
CA6239561
NM_001363604.2:c.596G>A