ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1063282217
Gene:
Linked Data
dbSNP Id:
rs1756230444
gnomAD v3:
4-62558331-A-G
gnomAD v4:
4-62558331-A-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.62558331A>G , CM000666.2:g.62558331A>G
GRCh38
NC_000004.11:g.63424049A>G , CM000666.1:g.63424049A>G
GRCh37
NC_000004.10:g.63106644A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_938814.1:n.161-5513A>G
Search 100 bp 5'
Search 100 bp 3'