ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2749087032
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.20485664C>A , CM000664.2:g.20485664C>A
GRCh38
NC_000002.11:g.20685425C>A , CM000664.1:g.20685425C>A
GRCh37
NC_000002.10:g.20548906C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_157978.1:n.530+3074G>T
Search 100 bp 5'
Search 100 bp 3'