ClinGen Allele Registry
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Canonical Allele Identifier:
CA2548494441
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.74554146C>T , CM000666.2:g.74554146C>T
GRCh38
NC_000004.11:g.75419863C>T , CM000666.1:g.75419863C>T
GRCh37
NC_000004.10:g.75638727C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001741513.1:n.167-1314G>A
Search 100 bp 5'
Search 100 bp 3'