ClinGen Allele Registry
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Canonical Allele Identifier:
CA2631848400
Gene: MIR193BHG
HGNC
NCBI
Linked Data
gnomAD v4:
16-14301579-T-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.14301579T>C , CM000678.2:g.14301579T>C
GRCh38
NC_000016.9:g.14395436T>C , CM000678.1:g.14395436T>C
GRCh37
NC_000016.8:g.14302937T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_170633.1:n.151+48T>C
Search 100 bp 5'
Search 100 bp 3'