ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645490468
Gene: SFTPC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003009.2:p.Leu181Val
CA4664075
NM_003018.4:c.541C>G