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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2602253164
Gene:
Linked Data
dbSNP Id:
rs2112527187
gnomAD v3:
5-104872048-G-C
gnomAD v4:
5-104872048-G-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.104872048G>C , CM000667.2:g.104872048G>C
GRCh38
NC_000005.9:g.104207749G>C , CM000667.1:g.104207749G>C
GRCh37
NC_000005.8:g.104235648G>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'