ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA129673
Gene: SPECC1L
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056145.4:p.Gln415Pro
CA129672
NM_015330.5:c.1244A>C