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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:
CA169052404
Gene:
Linked Data
dbSNP Id:
rs144258287
gnomAD v2:
7-150512103-G-GTACTTGTAGTA
gnomAD v3:
7-150815015-G-GTACTTGTAGTA
gnomAD v4:
7-150815015-G-GTACTTGTAGTA
MyVariant Identifiers:
chr7:g.150512103_150512104insTACTTGTAGTA (hg19)
chr7:g.150815015_150815016insTACTTGTAGTA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.150815015_150815016insTACTTGTAGTA , CM000669.2:g.150815015_150815016insTACTTGTAGTA
GRCh38
NC_000007.13:g.150512103_150512104insTACTTGTAGTA , CM000669.1:g.150512103_150512104insTACTTGTAGTA
GRCh37
NC_000007.12:g.150143036_150143037insTACTTGTAGTA
NCBI36
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