ClinGen Allele Registry
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Canonical Allele Identifier:
CA448169026
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh37
chr6:g.2912277G>T
Linked Data - Sequence & Population
gnomAD v4:
chr6-2912043-G-T
Linked Data - NCBI & NCI
dbSNP:
318497
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.2912043G>T , CM000668.2:g.2912043G>T
GRCh38
NC_000006.11:g.2912277G>T , CM000668.1:g.2912277G>T
GRCh37
NC_000006.10:g.2857276G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000454998.1:n.71C>A
Search 100 bp 5'
Search 100 bp 3'