ClinGen Allele Registry
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Canonical Allele Identifier:
CA111418806
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.177298634C>T , CM000666.2:g.177298634C>T
GRCh38
NC_000004.11:g.178219788C>T , CM000666.1:g.178219788C>T
GRCh37
NC_000004.10:g.178456782C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001741925.1:n.229+2413G>A
Search 100 bp 5'
Search 100 bp 3'