ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA127746
Gene: SERPINA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17993
ClinVar RCV Id:
RCV000019609
RCV000512618
RCV000731628
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121173.1:p.Thr109Met
CA127741
NM_001127701.2:c.326C>T