ClinGen Allele Registry
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Canonical Allele Identifier:
PA258072
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_001188306.1:p.Glu399Gln
CA258070
NM_001201377.2:c.1195G>C