ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826063462
Gene: SFTPC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3036502
ClinVar RCV Id:
RCV003921547
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165881.1:p.Met183Val
CA4664076
NM_001172410.2:c.547A>G