ClinGen Allele Registry
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Canonical Allele Identifier:
CA823187186
Gene: GMDS-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs1315875719
gnomAD v3:
6-2355473-C-T
gnomAD v4:
6-2355473-C-T
MyVariant Identifiers:
chr6:g.2355707C>T (hg19)
chr6:g.2355473C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.2355473C>T , CM000668.2:g.2355473C>T
GRCh38
NC_000006.11:g.2355707C>T , CM000668.1:g.2355707C>T
GRCh37
NC_000006.10:g.2300706C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_046229.1:n.402+26141C>T
Search 100 bp 5'
Search 100 bp 3'