ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916056563
Gene: CTH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2939
ClinVar RCV Id:
RCV000003073
RCV000727631
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714964.2:p.Thr67Ile
CA115889
NM_153742.5:c.200C>T