ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1308208122
Gene:
Linked Data - NCBI & NCI
dbSNP:
1550623
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.173348166G>C , CM000664.2:g.173348166G>C
GRCh38
NC_000002.11:g.174212894G>C , CM000664.1:g.174212894G>C
GRCh37
NC_000002.10:g.173921140G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000437243.1:n.42+8001C>G
Search 100 bp 5'
Search 100 bp 3'