ClinGen Allele Registry
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Canonical Allele Identifier:
CA1867567618
Community Standard Title: NC_000009.12:g.99817185C>T
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.99817185C>T , CM000671.2:g.99817185C>T
GRCh38
NC_000009.11:g.102579467C>T , CM000671.1:g.102579467C>T
GRCh37
NC_000009.10:g.101619288C>T
NCBI36
NG_028910.1:g.331C>T
Transcript Alleles
HGVS
Amino-acid Change
NR_109802.1:n.69+2636G>A
Search 100 bp 5'
Search 100 bp 3'