ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1468682191
Gene:
Linked Data
dbSNP Id:
rs1578880356
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.74554142T>C , CM000666.2:g.74554142T>C
GRCh38
NC_000004.11:g.75419859T>C , CM000666.1:g.75419859T>C
GRCh37
NC_000004.10:g.75638723T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001741513.1:n.167-1310A>G
Search 100 bp 5'
Search 100 bp 3'