ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825997776
Gene: SFTPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
165201
ClinVar RCV Id:
RCV000151847
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158117.1:p.Pro159Ser
CA177933
NM_001164645.2:c.475C>T