ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826063473
Gene: SFTPC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1750349
ClinVar RCV Id:
RCV002353616
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165881.1:p.Ile197Leu
CA370538493
NM_001172410.2:c.589A>C