ClinGen Allele Registry
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Canonical Allele Identifier:
CA12933939
Gene:
Linked Data
dbSNP Id:
rs17763685
gnomAD v2:
8-24856504-C-T
gnomAD v3:
8-24998990-C-T
gnomAD v4:
8-24998990-C-T
MyVariant Identifiers:
chr8:g.24856504C>T (hg19)
chr8:g.24998990C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.24998990C>T , CM000670.2:g.24998990C>T
GRCh38
NC_000008.10:g.24856504C>T , CM000670.1:g.24856504C>T
GRCh37
NC_000008.9:g.24912421C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_949591.1:n.474+6640C>T
Search 100 bp 5'
Search 100 bp 3'