ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1776689402
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.36601936T= , CM000670.2:g.36601936T=
GRCh38
NC_000008.10:g.36459454T= , CM000670.1:g.36459454T=
GRCh37
NC_000008.9:g.36578612T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_949670.1:n.98-64460A=
Search 100 bp 5'
Search 100 bp 3'