ClinGen Allele Registry
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Canonical Allele Identifier:
CA760016751
Gene:
Linked Data
dbSNP Id:
rs1226708119
MyVariant Identifiers:
chr2:g.16639615T>C (hg19)
chr2:g.16458347T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.16458347T>C , CM000664.2:g.16458347T>C
GRCh38
NC_000002.11:g.16639615T>C , CM000664.1:g.16639615T>C
GRCh37
NC_000002.10:g.16503096T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_939752.1:n.396-3253A>G
Search 100 bp 5'
Search 100 bp 3'