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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:
CA10654599
Gene:
Linked Data
ClinVar Variation Id:
369299
ClinVar RCV Id:
RCV000301523
RCV000335394
RCV000395871
dbSNP Id:
rs138569451
gnomAD v2:
19-7112264-C-T
gnomAD v3:
19-7112253-C-T
gnomAD v4:
19-7112253-C-T
COSMIC:
COSN4968553
MyVariant Identifiers:
chr19:g.7112264C>T (hg19)
chr19:g.7112253C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.7112253C>T , CM000681.2:g.7112253C>T
GRCh38
NC_000019.9:g.7112264C>T , CM000681.1:g.7112264C>T
GRCh37
NC_000019.8:g.7063264C>T
NCBI36
NG_008852.2:g.186748G>A
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