ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA128974
Gene: SERPINH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001226.2:p.Leu78Pro
CA128973
NM_001235.5:c.233T>C