ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1027923187
Gene:
Linked Data
gnomAD v3:
2-16458228-G-T
gnomAD v4:
2-16458228-G-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.16458228G>T , CM000664.2:g.16458228G>T
GRCh38
NC_000002.11:g.16639496G>T , CM000664.1:g.16639496G>T
GRCh37
NC_000002.10:g.16502977G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_939752.1:n.396-3134C>A
Search 100 bp 5'
Search 100 bp 3'