ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1595576560
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.160484499C= , CM000667.2:g.160484499C=
GRCh38
NC_000005.9:g.159911506C= , CM000667.1:g.159911506C=
GRCh37
NC_000005.8:g.159844084C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_132748.1:n.191-800C=
Search 100 bp 5'
Search 100 bp 3'