ClinGen Allele Registry
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Canonical Allele Identifier:
CA763641380
Gene:
Linked Data
dbSNP Id:
rs763267606
gnomAD v3:
2-20485711-G-C
gnomAD v4:
2-20485711-G-C
MyVariant Identifiers:
chr2:g.20685472G>C (hg19)
chr2:g.20485711G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.20485711G>C , CM000664.2:g.20485711G>C
GRCh38
NC_000002.11:g.20685472G>C , CM000664.1:g.20685472G>C
GRCh37
NC_000002.10:g.20548953G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_157978.1:n.530+3027C>G
Search 100 bp 5'
Search 100 bp 3'