ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094677
Gene: SMN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000009756
ClinVar Variation:
9178
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000335.1:p.Ser262Gly
CA254694
NM_000344.4:c.784A>G