ClinGen Allele Registry
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Canonical Allele Identifier:
PA645492181
Gene: ALDH7A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265032
ClinVar RCV Id:
RCV000255047
RCV001785540
RCV002282091
RCV002347969
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001173.2:p.Ala177Pro
CA3389735
NM_001182.5:c.529G>C