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: CA2590331813

Gene:

Linked Data

dbSNP Id: rs2149146154

gnomAD v3: 18-13916336-C-A

gnomAD v4: 18-13916336-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13916336C>A , CM000680.2:g.13916336C>A	GRCh38
NC_000018.9:g.13916335C>A , CM000680.1:g.13916335C>A	GRCh37
NC_000018.8:g.13906335C>A	NCBI36
NG_011819.1:g.4201G>T

Search 100 bp 5'

Search 100 bp 3'