ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580135974
Gene: SERPINA1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001121179.1:p.Gly139Cys
NM_001127707.2:c.415G>T