ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825893247
Gene: SPECC1L
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138940.4:p.Leu188Phe
CA10151980
NM_001145468.4:c.562C>T