ClinGen Allele Registry
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Canonical Allele Identifier:
CA2718231506
Gene:
Linked Data
dbSNP Id:
rs2130168260
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.126999624C>T , CM000670.2:g.126999624C>T
GRCh38
NC_000008.10:g.128011869C>T , CM000670.1:g.128011869C>T
GRCh37
NC_000008.9:g.128081051C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001746076.2:n.1301-6931C>T
Search 100 bp 5'
Search 100 bp 3'