ClinGen Allele Registry
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Canonical Allele Identifier:
PA645492343
Gene: ALDH7A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265034
ClinVar RCV Id:
RCV000256146
RCV000327621
RCV001252144
RCV002392780
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001173.2:p.Arg469His
CA3389431
NM_001182.5:c.1406G>A