ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826970390
Gene: SFTPC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
362553
ClinVar RCV Id:
RCV000306866
RCV000407976
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001304707.1:p.Val48Met
CA4663912
NM_001317778.2:c.142G>A