ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645492195
Gene: ALDH7A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265033
ClinVar RCV Id:
RCV000255618
RCV000691250
RCV003422188
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001173.2:p.Thr192Met
CA3389728
NM_001182.5:c.575C>T