ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825655580
Gene: SERPINA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000728123
ClinVar Variation:
593161
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121172.1:p.Ile116Met
CA7327511
NM_001127700.2:c.348C>G