ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825655556
Gene: SERPINA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17992
ClinVar RCV Id:
RCV000019608
RCV000169508
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121172.1:p.Ser77Phe
CA127738
NM_001127700.2:c.230C>T