ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1514316128
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.174540379T= , CM000666.2:g.174540379T=
GRCh38
NC_000004.11:g.175461530T= , CM000666.1:g.175461530T=
GRCh37
NC_000004.10:g.175698105T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_939489.1:n.311T=
Search 100 bp 5'
Search 100 bp 3'