ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916061201
Gene: SFTPB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
337309
ClinVar RCV Id:
RCV000371293
RCV002356470
RCV002057720
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_942140.3:p.Ala187Val
CA1744007
NM_198843.3:c.560C>T