ClinGen Allele Registry
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Canonical Allele Identifier:
CA1085350573
Gene: GMDS-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs1783371019
gnomAD v3:
6-2355511-G-C
gnomAD v4:
6-2355511-G-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.2355511G>C , CM000668.2:g.2355511G>C
GRCh38
NC_000006.11:g.2355745G>C , CM000668.1:g.2355745G>C
GRCh37
NC_000006.10:g.2300744G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_046229.1:n.402+26179G>C
Search 100 bp 5'
Search 100 bp 3'