ClinGen Allele Registry
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Canonical Allele Identifier:
CA1691656452
Gene:
Linked Data
dbSNP Id:
rs1583893701
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.17957865T>G , CM000669.2:g.17957865T>G
GRCh38
NC_000007.13:g.17997488T>G , CM000669.1:g.17997488T>G
GRCh37
NC_000007.12:g.17964013T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_927078.1:n.271-805T>G
Search 100 bp 5'
Search 100 bp 3'