ClinGen Allele Registry
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Canonical Allele Identifier:
CA102638072
Gene:
Linked Data
dbSNP Id:
rs559761715
MyVariant Identifiers:
chr4:g.100395439T>G (hg19)
chr4:g.99474282T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.99474282T>G , CM000666.2:g.99474282T>G
GRCh38
NC_000004.11:g.100395439T>G , CM000666.1:g.100395439T>G
GRCh37
NC_000004.10:g.100614462T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000506494.1:n.243-2420A>C
Search 100 bp 5'
Search 100 bp 3'