ClinGen Allele Registry
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Canonical Allele Identifier:
CA566344761
Gene:
Linked Data
dbSNP Id:
rs1389882589
gnomAD v2:
6-31407559-T-C
gnomAD v3:
6-31439782-T-C
gnomAD v4:
6-31439782-T-C
MyVariant Identifiers:
chr6:g.31407559T>C (hg19)
chr6:g.31439782T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31439782T>C , CM000668.2:g.31439782T>C
GRCh38
NC_000006.11:g.31407559T>C , CM000668.1:g.31407559T>C
GRCh37
NC_000006.10:g.31515538T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_926694.1:n.325A>G
Search 100 bp 5'
Search 100 bp 3'