ClinGen Allele Registry
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Canonical Allele Identifier:
CA226270813
Gene:
Linked Data
dbSNP Id:
rs17221829
gnomAD v2:
11-89466732-C-A
gnomAD v3:
11-89733564-C-A
gnomAD v4:
11-89733564-C-A
MyVariant Identifiers:
chr11:g.89466732C>A (hg19)
chr11:g.89733564C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.89733564C>A , CM000673.2:g.89733564C>A
GRCh38
NC_000011.9:g.89466732C>A , CM000673.1:g.89466732C>A
GRCh37
NC_000011.8:g.89106380C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000527668.1:n.2548C>A
Search 100 bp 5'
Search 100 bp 3'