ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827056995
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_001307742.1:p.Glu226Lys
CA377352744
NM_001320813.2:c.676G>A