ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1027923190
Gene:
Linked Data
gnomAD v3:
2-16458229-G-T
gnomAD v4:
2-16458229-G-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.16458229G>T , CM000664.2:g.16458229G>T
GRCh38
NC_000002.11:g.16639497G>T , CM000664.1:g.16639497G>T
GRCh37
NC_000002.10:g.16502978G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_939752.1:n.396-3135C>A
Search 100 bp 5'
Search 100 bp 3'