ClinGen Allele Registry
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Canonical Allele Identifier:
CA1839051078
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.21747804A= , CM000671.2:g.21747804A=
GRCh38
NC_000009.11:g.21747803A= , CM000671.1:g.21747803A=
GRCh37
NC_000009.10:g.21737803A=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001746563.2:n.163+20021T=
Search 100 bp 5'
Search 100 bp 3'