ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1027923227
Gene:
Linked Data
dbSNP Id:
rs1664552436
gnomAD v3:
2-16458236-T-G
gnomAD v4:
2-16458236-T-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.16458236T>G , CM000664.2:g.16458236T>G
GRCh38
NC_000002.11:g.16639504T>G , CM000664.1:g.16639504T>G
GRCh37
NC_000002.10:g.16502985T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_939752.1:n.396-3142A>C
Search 100 bp 5'
Search 100 bp 3'