ClinGen Allele Registry
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Canonical Allele Identifier:
PA645467204
Gene: SERPINA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000336993
RCV000443069
RCV003409418
ClinVar Variation:
289135
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121173.1:p.Pro393Ser
CA7327256
NM_001127701.2:c.1177C>T