ClinGen Allele Registry
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Canonical Allele Identifier:
CA552053199
Gene:
Linked Data
dbSNP Id:
rs1349828437
gnomAD v2:
4-63423660-C-A
gnomAD v3:
4-62557942-C-A
gnomAD v4:
4-62557942-C-A
MyVariant Identifiers:
chr4:g.63423660C>A (hg19)
chr4:g.62557942C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.62557942C>A , CM000666.2:g.62557942C>A
GRCh38
NC_000004.11:g.63423660C>A , CM000666.1:g.63423660C>A
GRCh37
NC_000004.10:g.63106255C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_938814.1:n.161-5902C>A
Search 100 bp 5'
Search 100 bp 3'