ClinGen Allele Registry
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Canonical Allele Identifier:
CA278115104
Gene:
Linked Data
dbSNP Id:
rs191683686
gnomAD v3:
16-9249447-C-T
gnomAD v4:
16-9249447-C-T
MyVariant Identifiers:
chr16:g.9343304C>T (hg19)
chr16:g.9249447C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.9249447C>T , CM000678.2:g.9249447C>T
GRCh38
NC_000016.9:g.9343304C>T , CM000678.1:g.9343304C>T
GRCh37
NC_000016.8:g.9250805C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_933054.1:n.70+64714C>T
Search 100 bp 5'
Search 100 bp 3'