ClinGen Allele Registry
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Canonical Allele Identifier:
CA1699640353
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.35361837T= , CM000669.2:g.35361837T=
GRCh38
NC_000007.13:g.35401447T= , CM000669.1:g.35401447T=
GRCh37
NC_000007.12:g.35367972T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_038864.1:n.187+9446T=
Search 100 bp 5'
Search 100 bp 3'