ClinGen Allele Registry
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Canonical Allele Identifier:
CA1817437311
Gene:
Linked Data
dbSNP Id:
rs1815191987
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.125474170C>G , CM000670.2:g.125474170C>G
GRCh38
NC_000008.10:g.126486412C>G , CM000670.1:g.126486412C>G
GRCh37
NC_000008.9:g.126555594C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928628.1:n.256+856C>G
Search 100 bp 5'
Search 100 bp 3'