ClinGen Allele Registry
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Canonical Allele Identifier:
CA761026185
Gene:
Linked Data
dbSNP:
2437896
gnomAD v3:
2:175457761 T / G
gnomAD v4:
chr2-175457761-T-G
MyVariant.info:
GRCh38
chr2:g.175457761T>G
GRCh37
chr2:g.176322489T>G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.175457761T>G , CM000664.2:g.175457761T>G
GRCh38
NC_000002.11:g.176322489T>G , CM000664.1:g.176322489T>G
GRCh37
NC_000002.10:g.176030735T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_923596.1:n.79+3077T>G
Search 100 bp 5'
Search 100 bp 3'