Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA1419573240

Gene: TERC HGNC NCBI

Linked Data

ClinVar Variation Id: 1013236

ClinVar RCV Id: RCV001311632

dbSNP Id: rs1777963643

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.169764970_169764971del , CM000665.2:g.169764970_169764971del	GRCh38
NC_000003.11:g.169482758_169482759del , CM000665.1:g.169482758_169482759del	GRCh37
NC_000003.10:g.170965452_170965453del	NCBI36
NG_016363.1:g.5095_5096del , LRG_347:g.5095_5096del

Transcript Alleles

HGVS	Amino-acid change
NR_001566.1:n.95_96del , LRG_347t1:n.95_96del

Search 100 bp 5'

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