Canonical Allele Identifier: PA645504983
Gene: SFTPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 229244
ClinVar RCV Id: RCV000217793
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001087239.2:p.Asp60Glu
CA5574393
NM_001093770.3:c.180C>G
CA5574394
NM_001093770.3:c.180C>A