ClinGen Allele Registry
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Canonical Allele Identifier:
CA1717166536
Gene: BUD23
HGNC
NCBI
Linked Data
dbSNP Id:
rs1797791361
gnomAD v4:
7-73683487-C-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.73683487C>G , CM000669.2:g.73683487C>G
GRCh38
NC_000007.13:g.73097817C>G , CM000669.1:g.73097817C>G
GRCh37
NC_000007.12:g.72735753C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000464615.1:n.359+104C>G
Search 100 bp 5'
Search 100 bp 3'