ClinGen Allele Registry
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Canonical Allele Identifier:
CA2683240762
Gene: BUD23
HGNC
NCBI
Linked Data
gnomAD v4:
7-73683487-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.73683487C>A , CM000669.2:g.73683487C>A
GRCh38
NC_000007.13:g.73097817C>A , CM000669.1:g.73097817C>A
GRCh37
NC_000007.12:g.72735753C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000464615.1:n.359+104C>A
Search 100 bp 5'
Search 100 bp 3'