ClinGen Allele Registry
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Canonical Allele Identifier:
CA12243729
Gene:
Linked Data
dbSNP Id:
rs2380220
gnomAD v2:
6-95967412-T-C
gnomAD v3:
6-95519536-T-C
gnomAD v4:
6-95519536-T-C
MyVariant Identifiers:
chr6:g.95967412T>C (hg19)
chr6:g.95519536T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.95519536T>C , CM000668.2:g.95519536T>C
GRCh38
NC_000006.11:g.95967412T>C , CM000668.1:g.95967412T>C
GRCh37
NC_000006.10:g.96074133T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_942795.1:n.30A>G
Search 100 bp 5'
Search 100 bp 3'