ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA298296841
Gene:
Linked Data
dbSNP Id:
rs144888938
gnomAD v2:
18-29336466-G-A
gnomAD v3:
18-31756503-G-A
gnomAD v4:
18-31756503-G-A
MyVariant Identifiers:
chr18:g.29336466G>A (hg19)
chr18:g.31756503G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.31756503G>A , CM000680.2:g.31756503G>A
GRCh38
NC_000018.9:g.29336466G>A , CM000680.1:g.29336466G>A
GRCh37
NC_000018.8:g.27590464G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_935338.1:n.66-5636G>A
Search 100 bp 5'
Search 100 bp 3'