ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1672979026
Gene:
Linked Data
dbSNP Id:
rs1777185430
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.151633469G>A , CM000668.2:g.151633469G>A
GRCh38
NC_000006.11:g.151954604G>A , CM000668.1:g.151954604G>A
GRCh37
NC_000006.10:g.151996297G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_943115.1:n.2496+3487G>A
Search 100 bp 5'
Search 100 bp 3'