ClinGen Allele Registry
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Canonical Allele Identifier:
PA3057315543
Gene: ALDH7A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004702860
ClinVar Variation:
3339118
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189333.2:p.Pro347Gln
CA360723289
NM_001202404.2:c.1040C>A