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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:
CA1067510747
Gene:
Calculator
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.122589978A>G , CM000666.2:g.122589978A>G
GRCh38
NC_000004.11:g.123511133A>G , CM000666.1:g.123511133A>G
GRCh37
NC_000004.10:g.123730583A>G
NCBI36
Search 100 bp 5'
Search 100 bp 3'