ClinGen Allele Registry
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Canonical Allele Identifier:
CA1728106713
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.97388442T= , CM000669.2:g.97388442T=
GRCh38
NC_000007.13:g.97017754T= , CM000669.1:g.97017754T=
GRCh37
NC_000007.12:g.96855690T=
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001745293.1:n.127-59795A=
Search 100 bp 5'
Search 100 bp 3'