ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1608485496
Gene:
Linked Data - NCBI & NCI
dbSNP:
9502570
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.7258384C>G , CM000668.2:g.7258384C>G
GRCh38
NC_000006.11:g.7258617C>G , CM000668.1:g.7258617C>G
GRCh37
NC_000006.10:g.7203616C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_926433.1:n.219-2061C>G
Search 100 bp 5'
Search 100 bp 3'