ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA974496559
Gene:
Linked Data
dbSNP Id:
rs1898217398
gnomAD v3:
16-9249694-T-G
gnomAD v4:
16-9249694-T-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.9249694T>G , CM000678.2:g.9249694T>G
GRCh38
NC_000016.9:g.9343551T>G , CM000678.1:g.9343551T>G
GRCh37
NC_000016.8:g.9251052T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_933054.1:n.70+64961T>G
Search 100 bp 5'
Search 100 bp 3'