ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2206404189
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.9249533G= , CM000678.2:g.9249533G=
GRCh38
NC_000016.9:g.9343390G= , CM000678.1:g.9343390G=
GRCh37
NC_000016.8:g.9250891G=
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_933054.1:n.70+64800G=
Search 100 bp 5'
Search 100 bp 3'