ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828229817
Gene: SFTPB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13204
ClinVar RCV Id:
RCV000014091
RCV001778652
RCV002381249
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354210.1:p.Arg236Cys
CA210533
NM_001367281.1:c.706C>T