ClinGen Allele Registry
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Canonical Allele Identifier:
PA347672
Gene: SERPINA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000019568
RCV000262058
RCV000594562
RCV003417992
ClinVar Variation:
315028
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000286.3:p.Phe76del
CA347671
NM_000295.5:c.227_229del