ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA715257183
Gene:
Linked Data
dbSNP Id:
rs1340993500
gnomAD v3:
15-69755849-T-C
gnomAD v4:
15-69755849-T-C
MyVariant Identifiers:
chr15:g.70048188T>C (hg19)
chr15:g.69755849T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.69755849T>C , CM000677.2:g.69755849T>C
GRCh38
NC_000015.9:g.70048188T>C , CM000677.1:g.70048188T>C
GRCh37
NC_000015.8:g.67835242T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001751592.2:n.86-307T>C
Search 100 bp 5'
Search 100 bp 3'