ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2698684591
Gene:
Linked Data
dbSNP Id:
rs2103349963
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.16458226A>G , CM000664.2:g.16458226A>G
GRCh38
NC_000002.11:g.16639494A>G , CM000664.1:g.16639494A>G
GRCh37
NC_000002.10:g.16502975A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_939752.1:n.396-3132T>C
Search 100 bp 5'
Search 100 bp 3'