ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825455665
Gene: SRSF1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001071634.1:p.Gly40Val
CA399946789
NM_001078166.2:c.119G>T