ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1672979296
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.151633745T= , CM000668.2:g.151633745T=
GRCh38
NC_000006.11:g.151954880T= , CM000668.1:g.151954880T=
GRCh37
NC_000006.10:g.151996573T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_943115.1:n.2496+3763T=
Search 100 bp 5'
Search 100 bp 3'