ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826253238
Gene: ALDH7A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265032
ClinVar RCV Id:
RCV000255047
RCV001785540
RCV002282091
RCV002347969
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001188306.1:p.Ala149Pro
CA3389735
NM_001201377.2:c.445G>C