ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2293960049
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.31756440C= , CM000680.2:g.31756440C=
GRCh38
NC_000018.9:g.29336403C= , CM000680.1:g.29336403C=
GRCh37
NC_000018.8:g.27590401C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_935338.1:n.66-5699C=
Search 100 bp 5'
Search 100 bp 3'