ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2683240740
Gene: BUD23
HGNC
NCBI
Linked Data
gnomAD v4:
7-73683473-G-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.73683473G>T , CM000669.2:g.73683473G>T
GRCh38
NC_000007.13:g.73097803G>T , CM000669.1:g.73097803G>T
GRCh37
NC_000007.12:g.72735739G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000464615.1:n.359+90G>T
Search 100 bp 5'
Search 100 bp 3'