ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829037445
Gene: SFTPC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2500719
ClinVar RCV Id:
RCV003225631
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372588.1:p.Pro148Leu
CA4664058
NM_001385659.1:c.443C>T