ClinGen Allele Registry
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Canonical Allele Identifier:
CA1728106707
Gene:
Linked Data
dbSNP Id:
rs1789256814
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.97388431A>G , CM000669.2:g.97388431A>G
GRCh38
NC_000007.13:g.97017743A>G , CM000669.1:g.97017743A>G
GRCh37
NC_000007.12:g.96855679A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001745293.1:n.127-59784T>C
Search 100 bp 5'
Search 100 bp 3'