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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:
CA645372431
Gene: GSTA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
221457
ClinVar RCV Id:
RCV000207029
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.52751643_52757905del , CM000668.2:g.52751643_52757905del
GRCh38
NC_000006.11:g.52616441_52622703del , CM000668.1:g.52616441_52622703del
GRCh37
NC_000006.10:g.52724400_52730662del
NCBI36
NG_029430.1:g.10659_16921del
Transcript Alleles
HGVS
Amino-acid change
ENST00000493422.3:c.43_480del
ENST00000493422.2:c.43_480del
NM_000846.4:c.43_480del
XM_011514532.1:c.43_480del
XM_011514532.3:c.43_480del
NM_000846.5:c.43_480del
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