ClinGen Allele Registry
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Canonical Allele Identifier:
CA1839056708
Gene:
Linked Data
dbSNP Id:
rs1823378248
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.21756026C>A , CM000671.2:g.21756026C>A
GRCh38
NC_000009.11:g.21756025C>A , CM000671.1:g.21756025C>A
GRCh37
NC_000009.10:g.21746025C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001746563.2:n.163+11799G>T
Search 100 bp 5'
Search 100 bp 3'