ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2999979196
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.56957464T>C , CM000678.2:g.56957464T>C
GRCh38
NC_000016.9:g.56991376T>C , CM000678.1:g.56991376T>C
GRCh37
NC_000016.8:g.55548877T>C
NCBI36
NG_008952.1:g.542T>C
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