ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1595062735
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.159360377G= , CM000667.2:g.159360377G=
GRCh38
NC_000005.9:g.158787385G= , CM000667.1:g.158787385G=
GRCh37
NC_000005.8:g.158719963G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_037889.1:n.954-1831G=
Search 100 bp 5'
Search 100 bp 3'