ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826970464
Gene: SFTPC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1389667
ClinVar RCV Id:
RCV001898005
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001304707.1:p.Glu185Lys
CA4664081
NM_001317778.2:c.553G>A