ClinGen Allele Registry
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Canonical Allele Identifier:
CA1804794290
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.97269700A= , CM000670.2:g.97269700A=
GRCh38
NC_000008.10:g.98281928A= , CM000670.1:g.98281928A=
GRCh37
NC_000008.9:g.98351104A=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_125390.1:n.471+149370T=
Search 100 bp 5'
Search 100 bp 3'