ClinGen Allele Registry
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Canonical Allele Identifier:
CA1800979837
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.88981169C= , CM000670.2:g.88981169C=
GRCh38
NC_000008.10:g.89993398C= , CM000670.1:g.89993398C=
GRCh37
NC_000008.9:g.90062514C=
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_002956667.1:n.179-99108G=
Search 100 bp 5'
Search 100 bp 3'