ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2001592044
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.114360653G= , CM000673.2:g.114360653G=
GRCh38
NC_000011.9:g.114231375G= , CM000673.1:g.114231375G=
GRCh37
NC_000011.8:g.113736585G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_120567.1:n.3813C=
Search 100 bp 5'
Search 100 bp 3'