ClinGen Allele Registry
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Canonical Allele Identifier:
CA1043878863
Gene:
Linked Data - Sequence & Population
gnomAD v3:
2:238295120 T / G
gnomAD v4:
chr2-238295120-T-G
Linked Data - NCBI & NCI
dbSNP:
4663302
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.238295120T>G , CM000664.2:g.238295120T>G
GRCh38
NC_000002.11:g.239203761T>G , CM000664.1:g.239203761T>G
GRCh37
NC_000002.10:g.238868500T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_002959458.1:n.103-3257T>G
Search 100 bp 5'
Search 100 bp 3'