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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:
PA2826257584
Gene: ALDH7A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17994
ClinVar RCV Id:
RCV000186744
RCV000718443
RCV002227440
RCV000019610
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189333.2:p.Glu363Gln
CA258070
NM_001202404.2:c.1087G>C