ClinGen Allele Registry
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Canonical Allele Identifier:
CA1282453557
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.118072882C= , CM000664.2:g.118072882C=
GRCh38
NC_000002.11:g.118830458C= , CM000664.1:g.118830458C=
GRCh37
NC_000002.10:g.118546928C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001739662.2:n.139-9866G=
Search 100 bp 5'
Search 100 bp 3'