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NOTICE - API Response Change:
Users of the API please note that
clingenPreferredTitle
is now
communityStandardTitle
ClinGen Allele Registry
Allele Registry
Pathogenicity Calculator
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Canonical Allele Identifier:
CA990116132
Gene:
Calculator
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.49001607T>C , CM000680.2:g.49001607T>C
GRCh38
NC_000018.9:g.46527977T>C , CM000680.1:g.46527977T>C
GRCh37
NC_000018.8:g.44781975T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'