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: CA2741808836

Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2664112

ClinVar RCV Id: RCV003445258

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240868866_240871449del , CM000664.2:g.240868866_240871449del	GRCh38
NC_000002.11:g.241808283_241810866del , CM000664.1:g.241808283_241810866del	GRCh37
NC_000002.10:g.241456956_241459539del	NCBI36
NG_008005.1:g.5122_7705del

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.1_524del
ENST00000307503.3:c.1_524del
ENST00000472436.1:n.21_544del
NM_000030.2:c.1_524del
NM_000030.3:c.1_524del

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