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ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1929211943
Community Standard Title: NC_000010.11:g.94761288C=
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.94761288C= , CM000672.2:g.94761288C=
GRCh38
NC_000010.10:g.96521045C= , CM000672.1:g.96521045C=
GRCh37
NC_000010.9:g.96511035C=
NCBI36
NG_008384.2:g.3583C=
NG_008384.3:g.3608C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000464755.1:c.932-13770C=
ENSP00000483243.1:n.932-13770C=
Search 100 bp 5'
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