ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA786414681
Gene:
Linked Data
dbSNP Id:
rs1335149749
gnomAD v3:
4-122590042-T-C
gnomAD v4:
4-122590042-T-C
MyVariant Identifiers:
chr4:g.123511197T>C (hg19)
chr4:g.122590042T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.122590042T>C , CM000666.2:g.122590042T>C
GRCh38
NC_000004.11:g.123511197T>C , CM000666.1:g.123511197T>C
GRCh37
NC_000004.10:g.123730647T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'