ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1462694347
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.62558394A= , CM000666.2:g.62558394A=
GRCh38
NC_000004.11:g.63424112A= , CM000666.1:g.63424112A=
GRCh37
NC_000004.10:g.63106707A=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_938814.1:n.161-5450A=
Search 100 bp 5'
Search 100 bp 3'