ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA43254735
Gene:
Linked Data
dbSNP Id:
rs1054281788
MyVariant Identifiers:
chr2:g.16639498A>G (hg19)
chr2:g.16458230A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.16458230A>G , CM000664.2:g.16458230A>G
GRCh38
NC_000002.11:g.16639498A>G , CM000664.1:g.16639498A>G
GRCh37
NC_000002.10:g.16502979A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_939752.1:n.396-3136T>C
Search 100 bp 5'
Search 100 bp 3'