ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA115892
Gene: CTH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2941
ClinVar RCV Id:
RCV000003075
RCV000331590
RCV003974791
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001893.2:p.Ser403Ile
CA115891
NM_001902.6:c.1208G>T