ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1839056737
Gene:
Linked Data
dbSNP Id:
rs1483978328
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.21756069C>A , CM000671.2:g.21756069C>A
GRCh38
NC_000009.11:g.21756068C>A , CM000671.1:g.21756068C>A
GRCh37
NC_000009.10:g.21746068C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001746563.2:n.163+11756G>T
Search 100 bp 5'
Search 100 bp 3'