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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:
CA15427192
Gene:
Linked Data
dbSNP Id:
rs6918698
rs2113429816
rs2113429819
rs2113429837
gnomAD v2:
6-132273257-G-C
gnomAD v3:
6-131952117-G-C
gnomAD v4:
6-131952117-G-C
MyVariant Identifiers:
chr6:g.132273257G>C (hg19)
chr6:g.131952117G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.131952117G>C , CM000668.2:g.131952117G>C
GRCh38
NC_000006.11:g.132273257G>C , CM000668.1:g.132273257G>C
GRCh37
NC_000006.10:g.132314950G>C
NCBI36
NG_016131.1:g.4262C>G
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