ClinGen Allele Registry
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Canonical Allele Identifier:
CA2580584528
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.172741860T>G , CM000663.2:g.172741860T>G
GRCh38
NC_000001.10:g.172711000T>G , CM000663.1:g.172711000T>G
GRCh37
NC_000001.9:g.170977623T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_922289.1:n.27-33959T>G
Search 100 bp 5'
Search 100 bp 3'