ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826253527
Gene: ALDH7A1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001942719
ClinVar Variation:
1365669
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001188306.1:p.Pro445Thr
CA360721237
NM_001201377.2:c.1333C>A