ClinGen Allele Registry
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Canonical Allele Identifier:
CA646533512
Gene:
Linked Data
dbSNP Id:
rs1664551614
COSMIC:
COSN4798842
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.16458191T>G , CM000664.2:g.16458191T>G
GRCh38
NC_000002.11:g.16639459T>G , CM000664.1:g.16639459T>G
GRCh37
NC_000002.10:g.16502940T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_939752.1:n.396-3097A>C
Search 100 bp 5'
Search 100 bp 3'