Canonical Allele Identifier: PA645489921
Gene: SCNN1G HGNC NCBI

Linked Data

ClinVar Variation Id: 318360
ClinVar RCV Id: RCV000345193 RCV000398385 RCV002522829 RCV003969899
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001030.2:p.Leu609Phe
CA7959981
NM_001039.4:c.1827G>C
CA395103840
NM_001039.4:c.1827G>T