ClinGen Allele Registry
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Canonical Allele Identifier:
CA1672979021
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.151633466C= , CM000668.2:g.151633466C=
GRCh38
NC_000006.11:g.151954601C= , CM000668.1:g.151954601C=
GRCh37
NC_000006.10:g.151996294C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_943115.1:n.2496+3484C=
Search 100 bp 5'
Search 100 bp 3'