ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2024151867
Gene:
Linked Data - NCBI & NCI
dbSNP:
7964407
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.28040056G>T , CM000674.2:g.28040056G>T
GRCh38
NC_000012.11:g.28192989G>T , CM000674.1:g.28192989G>T
GRCh37
NC_000012.10:g.28084256G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_931460.1:n.154-1098C>A
Search 100 bp 5'
Search 100 bp 3'