ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA274267
Gene: SERPINA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
186925
ClinVar RCV:
RCV000169405
ClinVar Variation:
189018
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121173.1:p.Gly249Arg
CA274265
NM_001127701.2:c.745G>C