ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825997711
Gene: SFTPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229244
ClinVar RCV Id:
RCV000217793
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158116.1:p.Asp45Glu
CA5574393
NM_001164644.2:c.135C>G
CA5574394
NM_001164644.2:c.135C>A