ClinGen Allele Registry
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Canonical Allele Identifier:
CA1122156089
Gene:
Linked Data
dbSNP Id:
rs906995015
gnomAD v3:
9-21756000-G-C
gnomAD v4:
9-21756000-G-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.21756000G>C , CM000671.2:g.21756000G>C
GRCh38
NC_000009.11:g.21755999G>C , CM000671.1:g.21755999G>C
GRCh37
NC_000009.10:g.21745999G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001746563.2:n.163+11825C>G
Search 100 bp 5'
Search 100 bp 3'