ClinGen Allele Registry
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Canonical Allele Identifier:
CA133694429
Gene: GMDS-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs1054893849
gnomAD v2:
6-2355920-A-G
gnomAD v3:
6-2355686-A-G
gnomAD v4:
6-2355686-A-G
MyVariant Identifiers:
chr6:g.2355920A>G (hg19)
chr6:g.2355686A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.2355686A>G , CM000668.2:g.2355686A>G
GRCh38
NC_000006.11:g.2355920A>G , CM000668.1:g.2355920A>G
GRCh37
NC_000006.10:g.2300919A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_046229.1:n.402+26354A>G
Search 100 bp 5'
Search 100 bp 3'