ClinGen Allele Registry
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Canonical Allele Identifier:
CA530950041
Gene:
Linked Data
dbSNP Id:
rs1192200766
gnomAD v2:
2-20685510-A-T
gnomAD v3:
2-20485749-A-T
gnomAD v4:
2-20485749-A-T
MyVariant Identifiers:
chr2:g.20685510A>T (hg19)
chr2:g.20485749A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.20485749A>T , CM000664.2:g.20485749A>T
GRCh38
NC_000002.11:g.20685510A>T , CM000664.1:g.20685510A>T
GRCh37
NC_000002.10:g.20548991A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_157978.1:n.530+2989T>A
Search 100 bp 5'
Search 100 bp 3'