ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA127658
Gene: SERPINA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121176.1:p.Glu387Lys
CA127650
NM_001127704.2:c.1159G>A