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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:
CA631851517
Gene:
Linked Data
dbSNP Id:
rs1222129276
gnomAD v2:
19-13001393-CAA-C
gnomAD v3:
19-12890579-CAA-C
gnomAD v4:
19-12890579-CAA-C
MyVariant Identifiers:
chr19:g.13001394_13001395del (hg19)
chr19:g.12890580_12890581del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.12890582_12890583del , CM000681.2:g.12890582_12890583del
GRCh38
NC_000019.9:g.13001396_13001397del , CM000681.1:g.13001396_13001397del
GRCh37
NC_000019.8:g.12862396_12862397del
NCBI36
NG_009292.1:g.4423_4424del
NG_013087.1:g.1623_1624del
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