ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645490435
Gene: SFTPC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
362559
ClinVar RCV Id:
RCV000309075
RCV000340385
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003009.2:p.Glu147Lys
CA4664053
NM_003018.4:c.439G>A