ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826970521
Gene: SFTPC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
362562
ClinVar RCV Id:
RCV000262185
RCV000331564
RCV001431879
RCV002348113
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001304708.1:p.Leu128Val
CA4664075
NM_001317779.2:c.382C>G