ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA210539
Gene: SFTPC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13209
ClinVar RCV Id:
RCV000014096
RCV000261074
RCV002054436
RCV002336082
RCV003904835
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003009.2:p.Arg167Gln
CA210538
NM_003018.4:c.500G>A