ClinGen Allele Registry
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Canonical Allele Identifier:
CA892287841
Gene:
Linked Data
dbSNP Id:
rs1317165340
MyVariant Identifiers:
chr2:g.67864640G>A (hg19)
chr2:g.67637508G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.67637508G>A , CM000664.2:g.67637508G>A
GRCh38
NC_000002.11:g.67864640G>A , CM000664.1:g.67864640G>A
GRCh37
NC_000002.10:g.67718144G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001739524.1:n.65+13458C>T
Search 100 bp 5'
Search 100 bp 3'