ClinGen Allele Registry
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Canonical Allele Identifier:
CA702501654
Gene:
Linked Data
dbSNP Id:
rs1379490355
gnomAD v3:
13-94853010-T-C
gnomAD v4:
13-94853010-T-C
MyVariant Identifiers:
chr13:g.95505264T>C (hg19)
chr13:g.94853010T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.94853010T>C , CM000675.2:g.94853010T>C
GRCh38
NC_000013.10:g.95505264T>C , CM000675.1:g.95505264T>C
GRCh37
NC_000013.9:g.94303265T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_110754.1:n.257-52454T>C
Search 100 bp 5'
Search 100 bp 3'