ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA15589677
Gene:
Linked Data
dbSNP Id:
rs2218220
gnomAD v2:
9-21756089-C-T
gnomAD v3:
9-21756090-C-T
gnomAD v4:
9-21756090-C-T
MyVariant Identifiers:
chr9:g.21756089C>T (hg19)
chr9:g.21756090C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.21756090C>T , CM000671.2:g.21756090C>T
GRCh38
NC_000009.11:g.21756089C>T , CM000671.1:g.21756089C>T
GRCh37
NC_000009.10:g.21746089C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001746563.2:n.163+11735G>A
Search 100 bp 5'
Search 100 bp 3'