ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA210547
Gene: SFTPC
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_003009.2:p.Leu194Pro
NM_003018.4:c.581T>C