ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741815654
Gene: SCNN1B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000327.2:p.Val548Met
CA7960598
NM_000336.3:c.1642G>A