ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1078753736
Gene:
Linked Data
dbSNP Id:
rs1744564819
gnomAD v3:
5-92222846-T-G
gnomAD v4:
5-92222846-T-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.92222846T>G , CM000667.2:g.92222846T>G
GRCh38
NC_000005.9:g.91518663T>G , CM000667.1:g.91518663T>G
GRCh37
NC_000005.8:g.91554419T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_948565.1:n.394+18162T>G
Search 100 bp 5'
Search 100 bp 3'