ClinGen Allele Registry
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Canonical Allele Identifier:
CA1487323478
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.116012923C= , CM000666.2:g.116012923C=
GRCh38
NC_000004.11:g.116934079C= , CM000666.1:g.116934079C=
GRCh37
NC_000004.10:g.117153528C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000508414.5:n.337-90788G=
Search 100 bp 5'
Search 100 bp 3'