ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1258276534
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.67637508G= , CM000664.2:g.67637508G=
GRCh38
NC_000002.11:g.67864640G= , CM000664.1:g.67864640G=
GRCh37
NC_000002.10:g.67718144G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001739524.1:n.65+13458C=
Search 100 bp 5'
Search 100 bp 3'