ClinGen Allele Registry
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Canonical Allele Identifier:
CA838949398
Gene:
Linked Data
dbSNP Id:
rs1448079464
MyVariant Identifiers:
chr7:g.46072515C>T (hg19)
chr7:g.46032917C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.46032917C>T , CM000669.2:g.46032917C>T
GRCh38
NC_000007.13:g.46072515C>T , CM000669.1:g.46072515C>T
GRCh37
NC_000007.12:g.46039040C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745203.1:n.1270-3701C>T
Search 100 bp 5'
Search 100 bp 3'