ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826970534
Gene: SFTPC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1750349
ClinVar RCV Id:
RCV002353616
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001304708.1:p.Ile144Leu
CA370538493
NM_001317779.2:c.430A>C