ClinGen Allele Registry
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Canonical Allele Identifier:
CA11094335
Gene: PLCL1
HGNC
NCBI
Linked Data
dbSNP Id:
rs9789480
gnomAD v2:
2-199047626-C-A
gnomAD v3:
2-198182902-C-A
gnomAD v4:
2-198182902-C-A
MyVariant Identifiers:
chr2:g.199047626C>A (hg19)
chr2:g.198182902C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.198182902C>A , CM000664.2:g.198182902C>A
GRCh38
NC_000002.11:g.199047626C>A , CM000664.1:g.199047626C>A
GRCh37
NC_000002.10:g.198755871C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000625084.1:n.44+33484C>A
Search 100 bp 5'
Search 100 bp 3'