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ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA670190529
Community Standard Title: NC_000010.11:g.94761288C>A
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.94761288C>A , CM000672.2:g.94761288C>A
GRCh38
NC_000010.10:g.96521045C>A , CM000672.1:g.96521045C>A
GRCh37
NC_000010.9:g.96511035C>A
NCBI36
NG_008384.2:g.3583C>A
NG_008384.3:g.3608C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000464755.1:c.932-13770C>A
ENSP00000483243.1:n.932-13770C>A
Search 100 bp 5'
Search 100 bp 3'