ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1481522779
Gene:
Linked Data - NCBI & NCI
dbSNP:
223469
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.102778621T>G , CM000666.2:g.102778621T>G
GRCh38
NC_000004.11:g.103699778T>G , CM000666.1:g.103699778T>G
GRCh37
Transcript Alleles
HGVS
Amino-acid Change
NR_125932.1:n.713-187T>G
Search 100 bp 5'
Search 100 bp 3'