ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1063282166
Gene:
Linked Data
dbSNP Id:
rs1756228789
gnomAD v3:
4-62558202-G-A
gnomAD v4:
4-62558202-G-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.62558202G>A , CM000666.2:g.62558202G>A
GRCh38
NC_000004.11:g.63423920G>A , CM000666.1:g.63423920G>A
GRCh37
NC_000004.10:g.63106515G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_938814.1:n.161-5642G>A
Search 100 bp 5'
Search 100 bp 3'