ClinGen Allele Registry
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Canonical Allele Identifier:
CA2766254546
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.19932426A>T , CM000686.2:g.19932426A>T
GRCh38
NC_000024.9:g.22094312A>T , CM000686.1:g.22094312A>T
GRCh37
NC_000024.8:g.20553700A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000616477.1:n.75T>A
Search 100 bp 5'
Search 100 bp 3'