ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100278
Gene: CTH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000003074
ClinVar Variation:
2940
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001893.2:p.Gln240Glu
CA115890
NM_001902.6:c.718C>G