ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1523296179
Gene: IRX2
HGNC
NCBI
Linked Data - NCBI & NCI
dbSNP:
2173226
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.2724248T>G , CM000667.2:g.2724248T>G
GRCh38
NC_000005.9:g.2724362T>G , CM000667.1:g.2724362T>G
GRCh37
NC_000005.8:g.2777362T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001742016.1:n.1838-2628A>C
Search 100 bp 5'
Search 100 bp 3'