ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA101614931
Gene:
Linked Data
dbSNP Id:
rs13132688
gnomAD v2:
4-100011171-G-A
gnomAD v3:
4-99090020-G-A
gnomAD v4:
4-99090020-G-A
MyVariant Identifiers:
chr4:g.100011171G>A (hg19)
chr4:g.99090020G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.99090020G>A , CM000666.2:g.99090020G>A
GRCh38
NC_000004.11:g.100011171G>A , CM000666.1:g.100011171G>A
GRCh37
NC_000004.10:g.100230194G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_037884.1:n.428+736G>A
Search 100 bp 5'
Search 100 bp 3'