ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA974496515
Gene:
Linked Data
dbSNP Id:
rs1898215670
gnomAD v3:
16-9249541-T-A
gnomAD v4:
16-9249541-T-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.9249541T>A , CM000678.2:g.9249541T>A
GRCh38
NC_000016.9:g.9343398T>A , CM000678.1:g.9343398T>A
GRCh37
NC_000016.8:g.9250899T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_933054.1:n.70+64808T>A
Search 100 bp 5'
Search 100 bp 3'