ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916004179
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_001189333.2:p.Thr222Ala
CA313173
NM_001202404.2:c.664A>G