ClinGen Allele Registry
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Canonical Allele Identifier:
CA1804794132
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.97269574G= , CM000670.2:g.97269574G=
GRCh38
NC_000008.10:g.98281802G= , CM000670.1:g.98281802G=
GRCh37
NC_000008.9:g.98350978G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_125390.1:n.471+149496C=
Search 100 bp 5'
Search 100 bp 3'