ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828229807
Gene: SFTPB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354210.1:p.Ala187Val
CA1744007
NM_001367281.1:c.560C>T