ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1818149635
Gene:
Linked Data
dbSNP Id:
rs964115751
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.126999625A>T , CM000670.2:g.126999625A>T
GRCh38
NC_000008.10:g.128011870A>T , CM000670.1:g.128011870A>T
GRCh37
NC_000008.9:g.128081052A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001746076.2:n.1301-6930A>T
Search 100 bp 5'
Search 100 bp 3'