ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826063353
Gene: SFTPC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000262185
RCV000331564
RCV001431879
RCV002348113
ClinVar Variation:
362562
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165828.1:p.Leu175Val
CA4664075
NM_001172357.2:c.523C>G