ClinGen Allele Registry
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Canonical Allele Identifier:
CA1338779629
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.239765595T= , CM000664.2:g.239765595T=
GRCh38
NC_000002.11:g.240687289T= , CM000664.1:g.240687289T=
GRCh37
NC_000002.10:g.240352226T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_037808.1:n.73+2663T=
Search 100 bp 5'
Search 100 bp 3'