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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:
CA12385987
Gene:
Linked Data
dbSNP Id:
rs2074488
rs2113345534
rs2113345539
rs2113345545
rs2113345566
rs2113345577
rs2113345585
rs2113345592
gnomAD v2:
6-31240431-G-T
gnomAD v3:
6-31272654-G-T
gnomAD v4:
6-31272654-G-T
MyVariant Identifiers:
chr6:g.31240431G>T (hg19)
chr6:g.31272654G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31272654G>T , CM000668.2:g.31272654G>T
GRCh38
NC_000006.11:g.31240431G>T , CM000668.1:g.31240431G>T
GRCh37
NC_000006.10:g.31348410G>T
NCBI36
NG_029422.2:g.4478C>A
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