ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139753598
Gene: SFTPB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_942140.3:p.Ala242Val
CA1743945
NM_198843.3:c.725C>T