ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826292701
Gene: SERPINH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193943.1:p.Arg116Ser
CA6190786
NM_001207014.2:c.346C>A