ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645432244
Gene: SFTPB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_942140.2:p.Ala199Val
CA1744007
NM_198843.2:c.596C>T