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: PA2829772242

Gene: IQSEC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1810464

ClinVar RCV Id: RCV002509951

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055890.1:p.Glu620Asp	CA413157423 NM_015075.1:c.1860G>T CA413157429 NM_015075.1:c.1860G>C