ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826253286
Gene: ALDH7A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204833
ClinVar RCV Id:
RCV000186729
RCV000466667
RCV002362975
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001188306.1:p.Thr194Ala
CA313173
NM_001201377.2:c.580A>G