ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA148460500
Gene:
Linked Data
dbSNP Id:
rs1009373067
gnomAD v3:
6-134398872-A-G
gnomAD v4:
6-134398872-A-G
MyVariant Identifiers:
chr6:g.134720010A>G (hg19)
chr6:g.134398872A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.134398872A>G , CM000668.2:g.134398872A>G
GRCh38
NC_000006.11:g.134720010A>G , CM000668.1:g.134720010A>G
GRCh37
NC_000006.10:g.134761703A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_428023.2:n.23+143A>G
Search 100 bp 5'
Search 100 bp 3'