ClinGen Allele Registry
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Canonical Allele Identifier:
CA133694428
Gene: GMDS-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs745940350
gnomAD v2:
6-2355915-C-A
gnomAD v3:
6-2355681-C-A
gnomAD v4:
6-2355681-C-A
MyVariant Identifiers:
chr6:g.2355915C>A (hg19)
chr6:g.2355681C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.2355681C>A , CM000668.2:g.2355681C>A
GRCh38
NC_000006.11:g.2355915C>A , CM000668.1:g.2355915C>A
GRCh37
NC_000006.10:g.2300914C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_046229.1:n.402+26349C>A
Search 100 bp 5'
Search 100 bp 3'