ClinGen Allele Registry
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Canonical Allele Identifier:
CA102637995
Gene:
Linked Data
dbSNP Id:
rs1011337029
MyVariant Identifiers:
chr4:g.100395402C>T (hg19)
chr4:g.99474245C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.99474245C>T , CM000666.2:g.99474245C>T
GRCh38
NC_000004.11:g.100395402C>T , CM000666.1:g.100395402C>T
GRCh37
NC_000004.10:g.100614425C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000506494.1:n.243-2383G>A
Search 100 bp 5'
Search 100 bp 3'