ClinGen Allele Registry
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Canonical Allele Identifier:
CA2197752690
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.95782367C= , CM000677.2:g.95782367C=
GRCh38
NC_000015.9:g.96325596C= , CM000677.1:g.96325596C=
GRCh37
NC_000015.8:g.94126600C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_932654.1:n.148-42822C=
Search 100 bp 5'
Search 100 bp 3'