ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA258078
Gene: ALDH7A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17998
ClinVar RCV Id:
RCV000019614
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001188306.1:p.Ala171Val
CA258077
NM_001201377.2:c.512C>T