ClinGen Allele Registry
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Canonical Allele Identifier:
PA349697
Gene: SERPINA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219368
ClinVar RCV Id:
RCV000205552
ClinVar Variation Id:
502069
ClinVar RCV Id:
RCV000594222
RCV002532643
RCV003392441
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121173.1:p.His293Gln
CA349696
NM_001127701.2:c.879C>G
CA7327386
NM_001127701.2:c.879C>A