ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829037189
Gene: SFTPC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3043221
ClinVar RCV Id:
RCV003934033
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372584.1:p.Gly176Glu
CA4664071
NM_001385655.1:c.527G>A