ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1552561753
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.66487938C= , CM000667.2:g.66487938C=
GRCh38
NC_000005.9:g.65783766C= , CM000667.1:g.65783766C=
GRCh37
NC_000005.8:g.65819522C=
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_948381.1:n.649-48898C=
Search 100 bp 5'
Search 100 bp 3'