ClinGen Allele Registry
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Canonical Allele Identifier:
CA442452506
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.174540379T>A , CM000666.2:g.174540379T>A
GRCh38
NC_000004.11:g.175461530T>A , CM000666.1:g.175461530T>A
GRCh37
NC_000004.10:g.175698105T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_939489.1:n.311T>A
Search 100 bp 5'
Search 100 bp 3'