ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1653094398
Gene:
Linked Data - NCBI & NCI
dbSNP:
6568401
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.105740943C>A , CM000668.2:g.105740943C>A
GRCh38
NC_000006.11:g.106188818C>A , CM000668.1:g.106188818C>A
GRCh37
NC_000006.10:g.106295511C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_942835.1:n.511-61452G>T
Search 100 bp 5'
Search 100 bp 3'