ClinGen Allele Registry
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Canonical Allele Identifier:
CA1691656465
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.17957914C= , CM000669.2:g.17957914C=
GRCh38
NC_000007.13:g.17997537C= , CM000669.1:g.17997537C=
GRCh37
NC_000007.12:g.17964062C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_927078.1:n.271-756C=
Search 100 bp 5'
Search 100 bp 3'