ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA14830598
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.54920285C>A , CM000682.2:g.54920285C>A
GRCh38
NC_000020.10:g.53536824C>A , CM000682.1:g.53536824C>A
GRCh37
NC_000020.9:g.52970231C>A
NCBI36
Search 100 bp 5'
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