ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742029143
Gene: SFTPB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2612913
ClinVar RCV Id:
RCV004356291
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_942140.3:p.Trp329Ser
CA347486976
NM_198843.3:c.986G>C