ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA107997254
Gene:
Linked Data
dbSNP Id:
rs1035031057
gnomAD v3:
4-148748426-A-G
gnomAD v4:
4-148748426-A-G
MyVariant Identifiers:
chr4:g.149669578A>G (hg19)
chr4:g.148748426A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.148748426A>G , CM000666.2:g.148748426A>G
GRCh38
NC_000004.11:g.149669578A>G , CM000666.1:g.149669578A>G
GRCh37
NC_000004.10:g.149889028A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001741441.1:n.1746-118331A>G
Search 100 bp 5'
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