ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139690332
Gene: ALDH7A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189333.2:p.Leu216Pro
CA360730934
NM_001202404.2:c.647T>C