ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829037128
Gene: SFTPC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372583.1:p.Cys189Tyr
CA370538445
NM_001385654.1:c.566G>A