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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:
CA2608579598
Gene: GAD2
HGNC
NCBI
Linked Data
gnomAD v4:
10-26216484-CT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.26216487del , CM000672.2:g.26216487del
GRCh38
NC_000010.10:g.26505416del , CM000672.1:g.26505416del
GRCh37
NC_000010.9:g.26545422del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000376261.7:c.-323del
ENSP00000365437.3:n.-323del
NM_000818.2:c.-323del
NP_000809.1:n.-323del
NM_001134366.1:c.-323del
NP_001127838.1:n.-323del
NM_000818.3:c.-323del
NP_000809.1:n.-323del
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