ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826253581
Gene: ALDH7A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
454167
ClinVar RCV:
RCV000544167
RCV002404449
RCV003441932
ClinVar Variation:
465325
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001188306.1:p.Ser492Phe
CA360718807
NM_001201377.2:c.1475C>T