ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA350452
Gene: SERPINA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219360
ClinVar RCV Id:
RCV000206411
RCV000729874
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121173.1:p.Pro393Thr
CA350451
NM_001127701.2:c.1177C>A