ClinGen Allele Registry
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Canonical Allele Identifier:
CA765550648
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr2:g.226257500G>C
GRCh37
chr2:g.227122216G>C
Linked Data - Sequence & Population
gnomAD v3:
2:226257500 G / C
gnomAD v4:
chr2-226257500-G-C
Linked Data - NCBI & NCI
dbSNP:
1515110
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.226257500G>C , CM000664.2:g.226257500G>C
GRCh38
NC_000002.11:g.227122216G>C , CM000664.1:g.227122216G>C
GRCh37
NC_000002.10:g.226830460G>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'