ClinGen Allele Registry
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Canonical Allele Identifier:
CA575783390
Gene: BUD23
HGNC
NCBI
Linked Data
dbSNP Id:
rs1554611908
gnomAD v2:
7-73097795-T-C
gnomAD v4:
7-73683465-T-C
MyVariant Identifiers:
chr7:g.73097795T>C (hg19)
chr7:g.73683465T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.73683465T>C , CM000669.2:g.73683465T>C
GRCh38
NC_000007.13:g.73097795T>C , CM000669.1:g.73097795T>C
GRCh37
NC_000007.12:g.72735731T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000464615.1:n.359+82T>C
Search 100 bp 5'
Search 100 bp 3'