ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830336239
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_714964.2:p.Gln196Glu
CA115890
NM_153742.5:c.586C>G