ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1717166520
Gene: BUD23
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.73683458C= , CM000669.2:g.73683458C=
GRCh38
NC_000007.13:g.73097788C= , CM000669.1:g.73097788C=
GRCh37
NC_000007.12:g.72735724C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000464615.1:n.359+75C=
Search 100 bp 5'
Search 100 bp 3'