ClinGen Allele Registry
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Canonical Allele Identifier:
CA938740761
Gene: SLC22A8
HGNC
NCBI
Linked Data
dbSNP Id:
rs2086347001
gnomAD v3:
11-62991272-T-TG
gnomAD v4:
11-62991272-T-TG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.62991276dup , CM000673.2:g.62991276dup
GRCh38
NC_000011.9:g.62758748dup , CM000673.1:g.62758748dup
GRCh37
NC_000011.8:g.62515324dup
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000539841.1:n.5459dup
Search 100 bp 5'
Search 100 bp 3'