ClinGen Allele Registry
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Canonical Allele Identifier:
CA823187274
Gene: GMDS-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs781427990
gnomAD v3:
6-2355656-A-C
gnomAD v4:
6-2355656-A-C
MyVariant Identifiers:
chr6:g.2355890A>C (hg19)
chr6:g.2355656A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.2355656A>C , CM000668.2:g.2355656A>C
GRCh38
NC_000006.11:g.2355890A>C , CM000668.1:g.2355890A>C
GRCh37
NC_000006.10:g.2300889A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_046229.1:n.402+26324A>C
Search 100 bp 5'
Search 100 bp 3'