ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830161801
Gene: SRSF12
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3170257
ClinVar RCV Id:
RCV004460687
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542781.3:p.His249Leu
CA364944378
NM_080743.5:c.746A>T