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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:
CA614283608
Gene:
Linked Data
dbSNP Id:
rs1244368394
rs2139494896
gnomAD v2:
14-55371429-C-G
gnomAD v3:
14-54904711-C-G
gnomAD v4:
14-54904711-C-G
MyVariant Identifiers:
chr14:g.55371429C>G (hg19)
chr14:g.54904711C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.54904711C>G , CM000676.2:g.54904711C>G
GRCh38
NC_000014.8:g.55371429C>G , CM000676.1:g.55371429C>G
GRCh37
NC_000014.7:g.54441179C>G
NCBI36
NG_008647.1:g.3114G>C
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