ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA820839328
Gene:
Linked Data
dbSNP Id:
rs1290962129
gnomAD v3:
6-151633796-A-C
gnomAD v4:
6-151633796-A-C
MyVariant Identifiers:
chr6:g.151954931A>C (hg19)
chr6:g.151633796A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.151633796A>C , CM000668.2:g.151633796A>C
GRCh38
NC_000006.11:g.151954931A>C , CM000668.1:g.151954931A>C
GRCh37
NC_000006.10:g.151996624A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_943115.1:n.2496+3814A>C
Search 100 bp 5'
Search 100 bp 3'