ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580207333
Gene: SFTPA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1704398
ClinVar RCV Id:
RCV002282785
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307743.1:p.Glu236Lys
CA377352744
NM_001320814.1:c.706G>A