ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573180769
Gene: ALDH7A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1373512
ClinVar RCV Id:
RCV001900388
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001173.2:p.Glu507Gln
CA360719284
NM_001182.5:c.1519G>C