ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2492005196
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.17844006C= , CM000664.2:g.17844006C=
GRCh38
NC_000002.11:g.18025273C= , CM000664.1:g.18025273C=
GRCh37
NC_000002.10:g.17888754C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_939764.2:n.447+3688G=
Search 100 bp 5'
Search 100 bp 3'