Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2826182492

Gene: TERT HGNC NCBI

Linked Data

ClinVar Variation Id: 1433750

ClinVar RCV Id: RCV002282656 RCV002561466 RCV003481200

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001180305.1:p.Asp718Asn	CA359079665 NM_001193376.3:c.2152G>A