ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA43254717
Gene:
Linked Data
dbSNP Id:
rs964206376
gnomAD v3:
2-16458111-G-A
gnomAD v4:
2-16458111-G-A
MyVariant Identifiers:
chr2:g.16639379G>A (hg19)
chr2:g.16458111G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.16458111G>A , CM000664.2:g.16458111G>A
GRCh38
NC_000002.11:g.16639379G>A , CM000664.1:g.16639379G>A
GRCh37
NC_000002.10:g.16502860G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_939752.1:n.396-3017C>T
Search 100 bp 5'
Search 100 bp 3'