ClinGen Allele Registry
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Canonical Allele Identifier:
PA645467131
Gene: SERPINA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121173.1:p.Ser69Phe
CA7327526
NM_001127701.2:c.206C>T